Disease on EC 1.3.99.3 - acyl-CoA dehydrogenase
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Acidosis
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Acidosis
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Acidosis
Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.
Acidosis, Lactic
Neurological disorders that may deteriorate with intensive physical rehabilitation.
Acute Kidney Injury
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
Acute Kidney Injury
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
acyl-coa dehydrogenase deficiency
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
acyl-coa dehydrogenase deficiency
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
acyl-coa dehydrogenase deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
acyl-coa dehydrogenase deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
acyl-coa dehydrogenase deficiency
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
acyl-coa dehydrogenase deficiency
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
acyl-coa dehydrogenase deficiency
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
acyl-coa dehydrogenase deficiency
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
acyl-coa dehydrogenase deficiency
A primigravida with very-long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
acyl-coa dehydrogenase deficiency
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
acyl-coa dehydrogenase deficiency
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
acyl-coa dehydrogenase deficiency
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
acyl-coa dehydrogenase deficiency
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
acyl-coa dehydrogenase deficiency
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.
acyl-coa dehydrogenase deficiency
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
acyl-coa dehydrogenase deficiency
Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy.
acyl-coa dehydrogenase deficiency
An unusual case of severe high anion gap metabolic acidosis.
acyl-coa dehydrogenase deficiency
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
acyl-coa dehydrogenase deficiency
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
acyl-coa dehydrogenase deficiency
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
acyl-coa dehydrogenase deficiency
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
acyl-coa dehydrogenase deficiency
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
acyl-coa dehydrogenase deficiency
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
acyl-coa dehydrogenase deficiency
Clinical Therapeutic Management of Human Mitochondrial Disorders.
acyl-coa dehydrogenase deficiency
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
acyl-coa dehydrogenase deficiency
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
acyl-coa dehydrogenase deficiency
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient.
acyl-coa dehydrogenase deficiency
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
acyl-coa dehydrogenase deficiency
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
acyl-coa dehydrogenase deficiency
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
acyl-coa dehydrogenase deficiency
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.
acyl-coa dehydrogenase deficiency
Deuterated Palmitate-driven Acylcarnitine formation by whole blood samples for a rapid diagnostic exploration of Mitochondrial fatty acid oxidation disorders.
acyl-coa dehydrogenase deficiency
Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.
acyl-coa dehydrogenase deficiency
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
acyl-coa dehydrogenase deficiency
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
acyl-coa dehydrogenase deficiency
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
acyl-coa dehydrogenase deficiency
Effect of a Sodium and Calcium DL-?-Hydroxybutyrate Salt in Healthy Adults.
acyl-coa dehydrogenase deficiency
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
acyl-coa dehydrogenase deficiency
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Efficiency of metabolic screening in childhood cardiomyopathies.
acyl-coa dehydrogenase deficiency
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.
acyl-coa dehydrogenase deficiency
Electron transfer flavoprotein deficiency: functional and molecular aspects.
acyl-coa dehydrogenase deficiency
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum).
acyl-coa dehydrogenase deficiency
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
acyl-coa dehydrogenase deficiency
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States.
acyl-coa dehydrogenase deficiency
ETF dehydrogenase advances in molecular genetics and impact on treatment.
acyl-coa dehydrogenase deficiency
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
acyl-coa dehydrogenase deficiency
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Ethylene Glycol Monomethyl Ether-Induced Toxicity is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family.
acyl-coa dehydrogenase deficiency
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
acyl-coa dehydrogenase deficiency
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
acyl-coa dehydrogenase deficiency
Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.
acyl-coa dehydrogenase deficiency
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
acyl-coa dehydrogenase deficiency
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
acyl-coa dehydrogenase deficiency
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.
acyl-coa dehydrogenase deficiency
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
acyl-coa dehydrogenase deficiency
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
acyl-coa dehydrogenase deficiency
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
acyl-coa dehydrogenase deficiency
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.
acyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
acyl-coa dehydrogenase deficiency
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
acyl-coa dehydrogenase deficiency
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.
acyl-coa dehydrogenase deficiency
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
acyl-coa dehydrogenase deficiency
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism.
acyl-coa dehydrogenase deficiency
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
acyl-coa dehydrogenase deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
acyl-coa dehydrogenase deficiency
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
acyl-coa dehydrogenase deficiency
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
acyl-coa dehydrogenase deficiency
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
acyl-coa dehydrogenase deficiency
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
acyl-coa dehydrogenase deficiency
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
acyl-coa dehydrogenase deficiency
Ketone body therapy with D/L-?-hydroxybutyric acid solution in severe MADD.
acyl-coa dehydrogenase deficiency
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
acyl-coa dehydrogenase deficiency
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM.
acyl-coa dehydrogenase deficiency
Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
acyl-coa dehydrogenase deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
acyl-coa dehydrogenase deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
acyl-coa dehydrogenase deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
acyl-coa dehydrogenase deficiency
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
acyl-coa dehydrogenase deficiency
Lipid storage myopathies: Current treatments and future directions.
acyl-coa dehydrogenase deficiency
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
acyl-coa dehydrogenase deficiency
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
acyl-coa dehydrogenase deficiency
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
acyl-coa dehydrogenase deficiency
Magnetic resonance spectroscopic characteristics of glutaric aciduria type II.
acyl-coa dehydrogenase deficiency
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
acyl-coa dehydrogenase deficiency
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl CoA in patient and control cell lines.
acyl-coa dehydrogenase deficiency
Metabolic lipid muscle disorders: biomarkers and treatment.
acyl-coa dehydrogenase deficiency
Metabolism of deuterium-labeled nonanoic acids in the riboflavin-deficient rat model of multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
acyl-coa dehydrogenase deficiency
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
acyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
acyl-coa dehydrogenase deficiency
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
acyl-coa dehydrogenase deficiency
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.
acyl-coa dehydrogenase deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment.
acyl-coa dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.
acyl-coa dehydrogenase deficiency
Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
acyl-coa dehydrogenase deficiency
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
acyl-coa dehydrogenase deficiency
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
acyl-coa dehydrogenase deficiency
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.
acyl-coa dehydrogenase deficiency
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report.
acyl-coa dehydrogenase deficiency
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.
acyl-coa dehydrogenase deficiency
Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
acyl-coa dehydrogenase deficiency
Neurological disorders that may deteriorate with intensive physical rehabilitation.
acyl-coa dehydrogenase deficiency
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
acyl-coa dehydrogenase deficiency
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
acyl-coa dehydrogenase deficiency
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
acyl-coa dehydrogenase deficiency
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
acyl-coa dehydrogenase deficiency
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
acyl-coa dehydrogenase deficiency
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
acyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
acyl-coa dehydrogenase deficiency
Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children.
acyl-coa dehydrogenase deficiency
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
acyl-coa dehydrogenase deficiency
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
acyl-coa dehydrogenase deficiency
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
acyl-coa dehydrogenase deficiency
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
acyl-coa dehydrogenase deficiency
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
acyl-coa dehydrogenase deficiency
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
acyl-coa dehydrogenase deficiency
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.
acyl-coa dehydrogenase deficiency
Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency--capacity of the choline oxidation pathway for methylation in vivo.
acyl-coa dehydrogenase deficiency
Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.
acyl-coa dehydrogenase deficiency
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
acyl-coa dehydrogenase deficiency
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.
acyl-coa dehydrogenase deficiency
Renal handling of carnitine in secondary carnitine deficiency disorders.
acyl-coa dehydrogenase deficiency
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations.
acyl-coa dehydrogenase deficiency
Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation.
acyl-coa dehydrogenase deficiency
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
acyl-coa dehydrogenase deficiency
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
acyl-coa dehydrogenase deficiency
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
acyl-coa dehydrogenase deficiency
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
acyl-coa dehydrogenase deficiency
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
acyl-coa dehydrogenase deficiency
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.
acyl-coa dehydrogenase deficiency
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree.
acyl-coa dehydrogenase deficiency
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
acyl-coa dehydrogenase deficiency
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
acyl-coa dehydrogenase deficiency
Some notes on fatal acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in a two-year-old warmblood stallion and European tar spot (Rhytisma acerinum).
acyl-coa dehydrogenase deficiency
Strategies to Increase the Production of Biosynthetic Riboflavin.
acyl-coa dehydrogenase deficiency
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
acyl-coa dehydrogenase deficiency
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
acyl-coa dehydrogenase deficiency
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
acyl-coa dehydrogenase deficiency
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
acyl-coa dehydrogenase deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
acyl-coa dehydrogenase deficiency
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
acyl-coa dehydrogenase deficiency
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
acyl-coa dehydrogenase deficiency
The story of equine atypical myopathy: a review from the beginning to a possible end.
acyl-coa dehydrogenase deficiency
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
acyl-coa dehydrogenase deficiency
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
acyl-coa dehydrogenase deficiency
Treatment Opportunities in Patients With Metabolic Myopathies.
acyl-coa dehydrogenase deficiency
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ(10)).
acyl-coa dehydrogenase deficiency
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
acyl-coa dehydrogenase deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
acyl-coa dehydrogenase deficiency
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
acyl-coa dehydrogenase deficiency
[Acyl-CoA dehydrogenase deficiency (very-long-chain, long-chain, medium-chain, short-chain), mitochondrial]
acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
acyl-coa dehydrogenase deficiency
[Clinical investigation in one patient with multiple acyl-CoA dehydrogenase deficiency and hearing loss].
acyl-coa dehydrogenase deficiency
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
acyl-coa dehydrogenase deficiency
[Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency]
acyl-coa dehydrogenase deficiency
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
acyl-coa dehydrogenase deficiency
[Lipid storage myopathies : A clinical and pathobiochemical challenge.]
acyl-coa dehydrogenase deficiency
[Medium-chain acyl-CoA dehydrogenase deficiency: contribution of molecular biology]
acyl-coa dehydrogenase deficiency
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
acyl-coa dehydrogenase deficiency
[Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in the horse].
acyl-coa dehydrogenase deficiency
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
acyl-coa dehydrogenase deficiency
[Multiple acyl-CoA dehydrogenase deficiency in a neonate].
acyl-coa dehydrogenase deficiency
[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings]
acyl-coa dehydrogenase deficiency
[Muscle weakness and early stages of liver failure in a 22-year-old man].
acyl-coa dehydrogenase deficiency
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
acyl-coa dehydrogenase deficiency
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
acyl-coa dehydrogenase deficiency
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
acyl-coa dehydrogenase deficiency
[Very long-chain (and long-chain) acyl-CoA dehydrogenase deficiency]
Avitaminosis
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
Brain Diseases
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.
Brain Diseases
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Brain Diseases
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Brain Diseases
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Brain Diseases
Neurological disorders that may deteriorate with intensive physical rehabilitation.
Breast Neoplasms
Expression and affinity purification of recombinant mammalian mitochondrial ribosomal small subunit (MRPS) proteins and protein-protein interaction analysis indicate putative role in tumourigenic cellular processes.
Breast Neoplasms
Screening of core genes and pathways in breast cancer development via comprehensive analysis of multi gene expression datasets.
Breast Neoplasms
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Carcinoma
Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.
Carcinoma
[Quantitative and comparative proteomics analysis in clear cell renal cell carcinoma and adjacent noncancerous tissues by 2-D DIGE].
Carcinoma, Hepatocellular
Hormonal and substrate regulation of 3-thia fatty acid metabolism in Morris 7800 C1 hepatoma cells.
Carcinoma, Renal Cell
[Quantitative and comparative proteomics analysis in clear cell renal cell carcinoma and adjacent noncancerous tissues by 2-D DIGE].
Cardiomegaly
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Cardiomegaly
Reactivation of peroxisome proliferator-activated receptor alpha is associated with contractile dysfunction in hypertrophied rat heart.
Cardiomyopathies
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Cardiomyopathies
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Cardiomyopathies
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
carnitine o-palmitoyltransferase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
carnitine o-palmitoyltransferase deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
carnitine o-palmitoyltransferase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
carnitine o-palmitoyltransferase deficiency
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
carnitine o-palmitoyltransferase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
carnitine o-palmitoyltransferase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Citrullinemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Colitis, Ulcerative
Sulfides impair short chain fatty acid beta-oxidation at acyl-CoA dehydrogenase level in colonocytes: implications for ulcerative colitis.
Colonic Neoplasms
Dysregulated Free Fatty Acid Receptor 2 Exacerbates Colonic Adenoma Formation in Apc Min/+ Mice: Relation to Metabolism and Gut Microbiota Composition.
Confusion
The effect of respiratory chain impairment of beta-oxidation in rat heart mitochondria.
Congenital Abnormalities
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
Congenital Abnormalities
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Cytochrome-c Oxidase Deficiency
Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
Deficiency Diseases
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
electron-transferring-flavoprotein dehydrogenase deficiency
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
Esophageal Squamous Cell Carcinoma
Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.
Fatty Liver
Inhibition of mitochondrial fatty acid oxidation in pentenoic acid-induced fatty liver. A possible model for Reye's syndrome.
Fatty Liver
Proteomics and gene expression analyses of mitochondria from squalene-treated apoE-deficient mice identify short-chain specific acyl-CoA dehydrogenase changes associated with fatty liver amelioration.
Fatty Liver
Reduction of beta-oxidation capacity of rat liver mitochondria by feeding orotic acid.
Genetic Diseases, Inborn
Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases.
Genetic Diseases, Inborn
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Genetic Diseases, Inborn
Ethylene Glycol Monomethyl Ether-Induced Toxicity is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family.
Genetic Diseases, Inborn
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Glucose Intolerance
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.
glutaryl-coa dehydrogenase (etf) deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Glycogen Storage Disease
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Glycogen Storage Disease Type II
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Glycogen Storage Disease Type II
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Glycogen Storage Disease Type II
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Glycogen Storage Disease Type V
Treatment Opportunities in Patients With Metabolic Myopathies.
Heart Failure
Enhanced acyl-CoA dehydrogenase activity is associated with improved mitochondrial and contractile function in heart failure.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Homocystinuria
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
[Metabolic defects with hypoketotic hypoglycemia]
Hypersensitivity, Delayed
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
Hypoglycemia
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Hypoglycemia
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Hypoglycemia
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Hypoglycemia
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
Hypoglycemia
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Infections
Proteomic comparison of Mycobacterium avium subspecies paratuberculosis grown in vitro and isolated from clinical cases of ovine paratuberculosis.
Insulin Resistance
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.
Insulin Resistance
Effect of gamma-carboxylase inhibition on serum osteocalcin may be partially protective against developing diabetic cardiomyopathy in type 2 diabetic rats.
isovaleryl-coa dehydrogenase deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Ketosis
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Lipid Metabolism Disorders
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Lipidoses
Metabolism of very long-chain monounsaturated fatty acids (22:1) and the adaptation to their presence in the diet.
Lipidoses
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Liver Failure, Acute
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
long-chain acyl-coa dehydrogenase deficiency
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
long-chain acyl-coa dehydrogenase deficiency
Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.
long-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
long-chain acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
long-chain acyl-coa dehydrogenase deficiency
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
long-chain acyl-coa dehydrogenase deficiency
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
long-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
long-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Maple Syrup Urine Disease
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Maple Syrup Urine Disease
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Maple Syrup Urine Disease
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
Maple Syrup Urine Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
medium-chain acyl-coa dehydrogenase deficiency
Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: application to medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
medium-chain acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
medium-chain acyl-coa dehydrogenase deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
medium-chain acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl CoA in patient and control cell lines.
medium-chain acyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
medium-chain acyl-coa dehydrogenase deficiency
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
medium-chain acyl-coa dehydrogenase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
medium-chain acyl-coa dehydrogenase deficiency
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
medium-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
medium-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Metabolic Diseases
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Metabolic Diseases
Effect of a Sodium and Calcium DL-?-Hydroxybutyrate Salt in Healthy Adults.
Metabolic Diseases
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Metabolic Diseases
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Metabolic Diseases
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Metabolic Diseases
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Metabolic Diseases
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
Metabolic Diseases
Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children.
Metabolic Diseases
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Metabolic Syndrome
Metabolic effects of RUBCN/Rubicon deficiency in kidney proximal tubular epithelial cells.
Metabolism, Inborn Errors
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylcrotonoyl-coa carboxylase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
methylcrotonoyl-coa carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Mitochondrial Diseases
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
An unusual case of severe high anion gap metabolic acidosis.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Effect of a Sodium and Calcium DL-?-Hydroxybutyrate Salt in Healthy Adults.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Ethylene Glycol Monomethyl Ether-Induced Toxicity is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric Aciduria Type II With Ketosis in a Male Infant.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Ketone body therapy with D/L-?-hydroxybutyric acid solution in severe MADD.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Lipid storage myopathies: Current treatments and future directions.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Lipolysis and lipophagy in lipid storage myopathies.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Magnetic resonance spectroscopic characteristics of glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Metabolic lipid muscle disorders: biomarkers and treatment.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Metabolism of deuterium-labeled nonanoic acids in the riboflavin-deficient rat model of multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Neurological disorders that may deteriorate with intensive physical rehabilitation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency--capacity of the choline oxidation pathway for methylation in vivo.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Quantification of hypoglycin A as butyl ester.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin transport and metabolism in humans.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Role of RNA in Molecular Diagnosis of MADD Patients.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Some notes on fatal acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in a two-year-old warmblood stallion and European tar spot (Rhytisma acerinum).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
State of the art in muscle lipid diseases.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The story of equine atypical myopathy: a review from the beginning to a possible end.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Treatment Opportunities in Patients With Metabolic Myopathies.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ(10)).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Vitamins and inherited human errors of metabolism.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Clinical investigation in one patient with multiple acyl-CoA dehydrogenase deficiency and hearing loss].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Glutaric aciduria type 2 (multiple acyl-CoA dehydrogenase deficiency)]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Lipid storage myopathies : A clinical and pathobiochemical challenge.]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Metabolic defects with hypoketotic hypoglycemia]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Muscle weakness and early stages of liver failure in a 22-year-old man].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Muscle Weakness
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
Muscle Weakness
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Muscle Weakness
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Muscle Weakness
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
Muscle Weakness
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Muscle Weakness
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Muscle Weakness
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Muscular Diseases
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Muscular Diseases
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
Muscular Diseases
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Muscular Diseases
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Muscular Diseases
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
Muscular Diseases
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Muscular Diseases
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum).
Muscular Diseases
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States.
Muscular Diseases
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Muscular Diseases
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Muscular Diseases
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
Muscular Diseases
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Muscular Diseases
Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.
Muscular Diseases
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Muscular Diseases
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Muscular Diseases
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
Muscular Diseases
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Muscular Diseases
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report.
Muscular Diseases
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Muscular Diseases
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Muscular Diseases
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Muscular Diseases
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Myalgia
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.
Myositis
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
nadh:ubiquinone reductase (h+-translocating) deficiency
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Neoplasm Metastasis
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Neoplasms
Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.
Neoplasms
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Neoplasms
Prognostic Value of the Overexpression of Fatty Acid Metabolism-Related Enzymes in Squamous Cell Carcinoma of the Head and Neck.
Neurologic Manifestations
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Optic Atrophy, Hereditary, Leber
Clinical Therapeutic Management of Human Mitochondrial Disorders.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
ornithine carbamoyltransferase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Pancreatitis
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
peptidyl-glutamate 4-carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Perinatal Death
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Perinatal Death
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
Peripheral Nervous System Diseases
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
phenylalanine 4-monooxygenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Phenylketonurias
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Phenylketonurias
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Phenylketonurias
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Polymyositis
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Propionic Acidemia
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Propionic Acidemia
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Propionic Acidemia
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Propionic Acidemia
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Propionic Acidemia
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Propionic Acidemia
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Propionic Acidemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Protein Deficiency
Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency.
pyruvate dehydrogenase (nadp+) deficiency
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Pyruvate Dehydrogenase Complex Deficiency Disease
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Respiratory Insufficiency
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.
Respiratory Insufficiency
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Reye Syndrome
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism.
Reye Syndrome
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Rhabdomyolysis
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
Rhabdomyolysis
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Rhabdomyolysis
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Rhabdomyolysis
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
Rhabdomyolysis
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
Riboflavin Deficiency
FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation.
Riboflavin Deficiency
[Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency]
short-chain 2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain 2-methylacyl-coa dehydrogenase deficiency
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
short-chain acyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
short-chain acyl-coa dehydrogenase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
short-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
short-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
short-chain acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Starvation
Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation.
Starvation
Effects of glucose starvation on the oxidation of fatty acids by maize root tip mitochondria and peroxisomes: evidence for mitochondrial fatty acid beta-oxidation and acyl-CoA dehydrogenase activity in a higher plant.
Starvation
Transcriptional regulation of the sulfate-starvation-induced gene sfnA by a sigma54-dependent activator of Pseudomonas putida.
Syncope
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Tachycardia
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Tachycardia, Ventricular
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Thrombosis
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Tuberculosis
Cloning and expression of an acyl-CoA dehydrogenase from Mycobacterium tuberculosis.
Tuberculosis
Functional annotation of putative fadE9 of Mycobacterium tuberculosis as isobutyryl-CoA dehydrogenase involved in valine catabolism.
Tuberculosis
Unraveling Cholesterol Catabolism in Mycobacterium tuberculosis: ChsE4-ChsE5 ?2?2 Acyl-CoA Dehydrogenase Initiates ?-Oxidation of 3-Oxo-cholest-4-en-26-oyl CoA.
Tyrosinemias
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Tyrosinemias
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
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