Associated Papers
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Novelli M et al.
Movement Disorders Clinical Practice, 2024
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
37214873 (PubMed )
Supplement: media-1.pdf
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › GCH1_Short_Variants_Pathogeneti
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.
Chen Y et al.
Frontiers in Genetics, 2022
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
Garavaglia B et al.
Journal of Inherited Metabolic Disease, 2004
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
Nardocci N et al.
Neurology, 2003
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