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
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
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Bozaci AE et al.
Jimd Reports, 2021
A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.
Kim JI et al.
Brain & Development, 2015
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.
Chang MS et al.
Annals of Clinical and Laboratory Science, 2015
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
Naiya T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2012
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
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