Associated Papers
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Gowda VK et al.
Brain & Development, 2025
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
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
Ray S et al.
Metabolic Brain Disease, 2022
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
A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency.
Gowda VK et al.
Indian Journal of Pediatrics, 2019
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