Disease on EC 1.1.1.153 - sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
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6,7-dihydropteridine reductase deficiency
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
6,7-dihydropteridine reductase deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
6-pyruvoyltetrahydropterin synthase deficiency
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
6-pyruvoyltetrahydropterin synthase deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Adenocarcinoma
Targeted Proteomics for Multiplexed Verification of Markers of Colorectal Tumorigenesis.
Adenoma
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Adenoma
Targeted Proteomics for Multiplexed Verification of Markers of Colorectal Tumorigenesis.
Adrenal Cortex Neoplasms
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Adrenocortical Carcinoma
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Adrenoleukodystrophy
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
Albuminuria
The association between methylation levels of targeted genes and albuminuria in patients with early diabetic kidney disease.
aromatic-l-amino-acid decarboxylase deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Arthralgia
Sepiapterin reductase inhibition selectively reduces inflammatory joint pain and increases urinary sepiapterin.
Asthma
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
Asthma
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels.
Atherosclerosis
Use of Network Pharmacology to Explore the Mechanism of Gegen (Puerariae lobatae Radix) in the Treatment of Type 2 Diabetes Mellitus Associated with Hyperlipidemia.
Bradycardia
Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.
Breast Neoplasms
AKR1B1 promotes basal-like breast cancer progression by a positive feedback loop that activates the EMT program.
Breast Neoplasms
The knockdown of the sepiapterin reductase gene suppresses the proliferation of breast cancer by inducing ROS-mediated apoptosis.
Breast Neoplasms
Validation of DNA promoter hypermethylation biomarkers in breast cancer--a short report.
Carcinoma
Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively present.
Carcinoma
The Expression and Clinical Significance of Aldo-Keto Reductase 1 Member B1 in Gastric Carcinoma.
Carcinoma, Hepatocellular
Elevated expression of sepiapterin reductase, regulator of G protein signaling 1, hypothetical protein CXorf58 homolog, and zinc finger and BTB domain-containing protein 21 isoform X2 is associated with progression of hepatocellular carcinoma.
Carcinoma, Hepatocellular
Sepiapterin reductase promotes hepatocellular carcinoma progression via FoxO3a/Bim signaling in a nonenzymatic manner.
Cardiomegaly
Identification of a novel aldose reductase-like gene upregulated in the failing heart of cardiomyopathic hamster.
Cataract
AKR1B1-Induced Epithelial-Mesenchymal Transition Mediated by RAGE-Oxidative Stress in Diabetic Cataract Lens.
Cataract
Aldose Reductase Polymorphisms, Fasting Blood Glucose, and Age-Related Cortical Cataract.
Cataract
The enzymatic activities of GTP cyclohydrolase, sepiapterin reductase, dihydropteridine reductase and dihydrofolate reductase; and tetrahydrobiopterin content in mammalian ocular tissues and in human senile cataracts.
Colonic Neoplasms
Evaluation of an aldo-keto reductase gene signature with prognostic significance in colon cancer via activation of epithelial to mesenchymal transition and the p70S6K pathway.
Colonic Neoplasms
Proteasome inhibitors MG-132 and bortezomib induce AKR1C1, AKR1C3, AKR1B1, and AKR1B10 in human colon cancer cell lines SW-480 and HT-29.
Colorectal Neoplasms
Opposing roles of the aldo-keto reductases AKR1B1 and AKR1B10 in colorectal cancer.
Diabetes Complications
AKR1B1 promotes basal-like breast cancer progression by a positive feedback loop that activates the EMT program.
Diabetes Complications
Aldo-Keto Reductase Family 1 B1 Inhibitors: Old Drugs with New Perspectives.
Diabetes Complications
Aldose reductase C-106T polymorphism is associated with the risk of essential hypertension.
Diabetes Complications
Aldose reductase deficiency protects sugar-induced lens opacification in rats.
Diabetes Complications
Artichoke leaf extract, as AKR1B1 inhibitor, decreases sorbitol level in the rat eye lenses under high glucose conditions ex vivo.
Diabetes Complications
Human and rodent aldo-keto reductases from the AKR1B subfamily and their specificity with retinaldehyde.
Diabetes Complications
Novel 3,4-dihydroquinolin-2(1H)-one derivatives as dual inhibitor targeting AKR1B1/ROS for treatment of diabetic complications: Design, synthesis and biological evaluation.
Diabetes Complications
The Human Aldose Reductase AKR1B1 Qualifies as the Primary Prostaglandin F Synthase in the Endometrium.
Diabetes Complications
Use of Network Pharmacology to Explore the Mechanism of Gegen (Puerariae lobatae Radix) in the Treatment of Type 2 Diabetes Mellitus Associated with Hyperlipidemia.
Diabetes Mellitus
C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.
Diabetes Mellitus, Type 1
A systematic meta-analysis of genetic association studies for diabetic retinopathy.
Diabetes Mellitus, Type 2
C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.
Diabetic Nephropathies
C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.
Diabetic Nephropathies
Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians.
Diabetic Neuropathies
Chromosomal Aberrations and Exon 1 Mutation in the AKR1B1 Gene in Patients with Diabetic Neuropathy.
Diabetic Neuropathies
The association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescents.
Diabetic Retinopathy
A systematic meta-analysis of genetic association studies for diabetic retinopathy.
Diabetic Retinopathy
Genetic association of AKR1B1 gene polymorphism rs759853 with diabetic retinopathy risk: A meta-analysis.
Disorders of Excessive Somnolence
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
Dystonia
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Dystonia
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.
Dystonia
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.
Dystonia
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
Dystonia
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Dystonia
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Dystonia
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
Dystonia
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Endometrial Neoplasms
AKR1B1 and AKR1B10 as Prognostic Biomarkers of Endometrioid Endometrial Carcinomas.
Endometrial Neoplasms
Decreased levels of AKR1B1 and AKR1B10 in cancerous endometrium compared to adjacent non-cancerous tissue.
Endometriosis
Expression of AKR1B1, AKR1C3 and other genes of prostaglandin F2? biosynthesis and action in ovarian endometriosis tissue and in model cell lines.
Essential Hypertension
Aldose reductase C-106T polymorphism is associated with the risk of essential hypertension.
Fibrosarcoma
Design, synthesis, structure-activity relationships and X-ray structural studies of novel 1-oxopyrimido[4,5-c]quinoline-2-acetic acid derivatives as selective and potent inhibitors of human aldose reductase.
Glioma
Silencing of Long Non-Coding RNA (LncRNA) Non-Coding RNA Activated by DNA Damage (NORAD) Inhibits Proliferation, Invasion, Migration, and Promotes Apoptosis of Glioma Cells via Downregulating the Expression of AKR1B1.
gtp cyclohydrolase i deficiency
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
gtp cyclohydrolase i deficiency
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
gtp cyclohydrolase i deficiency
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
gtp cyclohydrolase i deficiency
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Hypercalcemia
Disruption of aldose reductase gene (Akr1b1) causes defect in urinary concentrating ability and divalent cation homeostasis.
Hyperglycemia
AKR1B1 Upregulation Contributes to Neuroinflammation and Astrocytes Proliferation by Regulating the Energy Metabolism in Rat Spinal Cord Injury.
Hyperglycemia
Aldose Reductase Polymorphisms, Fasting Blood Glucose, and Age-Related Cortical Cataract.
Hypersensitivity
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels.
Hypertension
Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension.
Hypertension
Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.
Hypothyroidism
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
Infections
BVDV alters uterine prostaglandin production during pregnancy recognition in cows.
Insulin Resistance
Use of Network Pharmacology to Explore the Mechanism of Gegen (Puerariae lobatae Radix) in the Treatment of Type 2 Diabetes Mellitus Associated with Hyperlipidemia.
Intellectual Disability
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Joint Diseases
Sepiapterin reductase inhibition selectively reduces inflammatory joint pain and increases urinary sepiapterin.
Leiomyoma
Ulipristal Acetate Mediates Decreased Proteoglycan Expression Through Regulation of Nuclear Factor of Activated T-Cells (NFAT5).
Leukemia, Myeloid, Acute
Expression of the Aldo-Ketoreductases AKR1B1 and AKR1B10 in Human Cancers.
Liver Diseases, Alcoholic
Major differences exist in the function and tissue-specific expression of human aflatoxin B1 aldehyde reductase and the principal human aldo-keto reductase AKR1 family members.
Liver Neoplasms
Aldo-Keto Reductases as Early Biomarkers of Hepatocellular Carcinoma: A Comparison Between Animal Models and Human HCC.
Liver Neoplasms
Overexpression and enhanced specific activity of aldoketo reductases (AKR1B1 & AKR1B10) in human breast cancers.
Lung Neoplasms
Aldo-Keto Reductase Family 1 B1 Inhibitors: Old Drugs with New Perspectives.
Lung Neoplasms
Screening and identification of lung cancer metastasis-related genes by suppression subtractive hybridization.
methylmalonyl-coa epimerase deficiency
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.
Movement Disorders
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
Movement Disorders
Very early pattern of movement disorders in sepiapterin reductase deficiency.
Multiple Myeloma
Expression of the Aldo-Ketoreductases AKR1B1 and AKR1B10 in Human Cancers.
Muscle Hypotonia
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
Muscular Dystrophy, Duchenne
Tetrahydrobiopterin synthesis and metabolism is impaired in dystrophin-deficient mdx mice and humans.
Neoplasm Metastasis
AKR1B1 promotes basal-like breast cancer progression by a positive feedback loop that activates the EMT program.
Neoplasm Metastasis
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
Neoplasm Metastasis
Sepiapterin reductase promotes hepatocellular carcinoma progression via FoxO3a/Bim signaling in a nonenzymatic manner.
Neoplasm Metastasis
The Expression and Clinical Significance of Aldo-Keto Reductase 1 Member B1 in Gastric Carcinoma.
Neoplasm, Residual
DNA Methylation Profiling of Breast Cancer Cell Lines along the Epithelial Mesenchymal Spectrum-Implications for the Choice of Circulating Tumour DNA Methylation Markers.
Neoplasms
AKR1B1 promotes basal-like breast cancer progression by a positive feedback loop that activates the EMT program.
Neoplasms
AKR1B1 Upregulation Contributes to Neuroinflammation and Astrocytes Proliferation by Regulating the Energy Metabolism in Rat Spinal Cord Injury.
Neoplasms
Aldo Keto Reductases AKR1B1 and AKR1B10 in Cancer: Molecular Mechanisms and Signaling Networks.
Neoplasms
Aldo-keto reductase inhibitors increase the anticancer effects of tyrosine kinase inhibitors in chronic myelogenous leukemia.
Neoplasms
Aldo-Keto Reductases Mediated Cytotoxicity of 2-Deoxyglucose: A Novel Anticancer Mechanism.
Neoplasms
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
Neoplasms
Antioxidant effects of N-acetylserotonin: possible mechanisms and clinical implications.
Neoplasms
Bioinformatic analysis of differentially expressed genes as prognostic markers in pheochromocytoma and paraganglioma tumors.
Neoplasms
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Neoplasms
Design, synthesis, structure-activity relationships and X-ray structural studies of novel 1-oxopyrimido[4,5-c]quinoline-2-acetic acid derivatives as selective and potent inhibitors of human aldose reductase.
Neoplasms
Engineering aldo-keto reductase 1B10 to mimic the distinct 1B15 topology and specificity towards inhibitors and substrates, including retinoids and steroids.
Neoplasms
Epigenetics override pro-inflammatory PTGS transcriptomic signature towards selective hyperactivation of PGE2 in colorectal cancer.
Neoplasms
Expression of the prostaglandin F synthase AKR1B1 and the prostaglandin transporter SLCO2A1 in human fetal membranes in relation to spontaneous term and preterm labor.
Neoplasms
Genes for prostaglandin synthesis, transport and inactivation are differentially expressed in human uterine tissues, and the prostaglandin F synthase AKR1B1 is induced in myometrial cells by inflammatory cytokines.
Neoplasms
Human and rodent aldo-keto reductases from the AKR1B subfamily and their specificity with retinaldehyde.
Neoplasms
Identification of candidate predictive markers of anticancer drug sensitivity using a panel of human cancer cell lines.
Neoplasms
Nobiletin exhibits potent inhibition on tumor necrosis factor alpha-induced calcification of human aortic valve interstitial cells via targeting ABCG2 and AKR1B1.
Neoplasms
Novel 3,4-dihydroquinolin-2(1H)-one derivatives as dual inhibitor targeting AKR1B1/ROS for treatment of diabetic complications: Design, synthesis and biological evaluation.
Neoplasms
Novel Interaction of Ornithine Decarboxylase with Sepiapterin Reductase Regulates Neuroblastoma Cell Proliferation.
Neoplasms
Opposing roles of the aldo-keto reductases AKR1B1 and AKR1B10 in colorectal cancer.
Neoplasms
Overexpression and enhanced specific activity of aldoketo reductases (AKR1B1 & AKR1B10) in human breast cancers.
Neoplasms
Quantitative analysis of the human AKR family members in cancer cell lines using the mTRAQ/MRM approach.
Neoplasms
Role of aldo-keto reductase family 1 member B1 (AKR1B1) in the cancer process and its therapeutic potential.
Neoplasms
Sepiapterin reductase promotes hepatocellular carcinoma progression via FoxO3a/Bim signaling in a nonenzymatic manner.
Neoplasms
The Expression and Clinical Significance of Aldo-Keto Reductase 1 Member B1 in Gastric Carcinoma.
Neoplasms
The knockdown of the sepiapterin reductase gene suppresses the proliferation of breast cancer by inducing ROS-mediated apoptosis.
Neoplasms
[Aldo-keto reductase 1 member B1 (AKR1B1) inhibits retinal ganglion cell activity via activating NF-?B pathway and inducing mouse BV-2 microglia activation].
Neoplasms
[Expression of genes involved in retinoic acid biosynthesis in human gastric cancer].
Neuralgia
Repurposing of Tranilast for Potential Neuropathic Pain Treatment by Inhibition of Sepiapterin Reductase in the BH4 Pathway.
Neuroblastoma
Effect of lipopolysaccharide on the gene expression of the enzymes involved in tetrahydrobiopterin de novo biosynthesis in murine neuroblastoma cell line N1E-115.
Neuroblastoma
Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
Neuroblastoma
Novel Interaction of Ornithine Decarboxylase with Sepiapterin Reductase Regulates Neuroblastoma Cell Proliferation.
Neuroinflammatory Diseases
AKR1B1 Upregulation Contributes to Neuroinflammation and Astrocytes Proliferation by Regulating the Energy Metabolism in Rat Spinal Cord Injury.
Obstetric Labor, Premature
Expression of the prostaglandin F synthase AKR1B1 and the prostaglandin transporter SLCO2A1 in human fetal membranes in relation to spontaneous term and preterm labor.
Ovarian Neoplasms
Proteomic alterations of fibroblasts induced by ovarian cancer cells reveal potential cancer targets.
Pancreatic Neoplasms
?2-AR regulates the expression of AKR1B1 in human pancreatic cancer cells and promotes their proliferation via the ERK1/2 pathway.
Parkinson Disease
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
Parkinson Disease
Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
Parkinson Disease
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Parkinsonian Disorders
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Phenylketonurias
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Phenylketonurias
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
Phenylketonurias
Tetrahydrobiopterin enhances mitochondrial biogenesis and cardiac contractility via stimulation of PGC1? signaling.
Phenylketonurias
Tetrahydrobiopterin synthesis and metabolism is impaired in dystrophin-deficient mdx mice and humans.
Phenylketonurias
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Renal Insufficiency, Chronic
Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.
Rhinitis
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels.
Rhinitis, Allergic
Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels.
Sarcoma
[Characteristics of sepiapterin reductase from Tawa and Yoshida sarcomas (author's transl)]
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency: Report of 5 new cases.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Sleep and rhythm consequences of a genetically induced loss of serotonin.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Two Greek siblings with sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Very early pattern of movement disorders in sepiapterin reductase deficiency.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Spinal Cord Injuries
AKR1B1 Upregulation Contributes to Neuroinflammation and Astrocytes Proliferation by Regulating the Energy Metabolism in Rat Spinal Cord Injury.
Uterine Cervical Neoplasms
The AKR1B1 inhibitor epalrestat suppresses the progression of cervical cancer.
Uveitis
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
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