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GTP cyclohydrolase- I
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OMIM - Metabolic disease
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Inter and intra-generational phenotypic variability in a Portuguese family with DYT-GCH1.
GCH1 mutations in hereditary spastic paraplegia.
SPY1 inhibits neuronal ferroptosis in amyotrophic lateral sclerosis by reducing lipid peroxidation t…
Oxidative Stress, GTPCH1, and Endothelial Nitric Oxide Synthase Uncoupling in Hypertension.
Phenotypic drug screen uncovers the metabolic GCH1/BH4 pathway as key regulator of EGFR/KRAS-mediate…
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A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalan…
Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome
A Study of PTC923 in Participants With Phenylketonuria
A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria
Vascular Function and Biomarker Assessments in Healthy Volunteers and in Patients With Type 2 Diabet…
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