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• W2076662488 abstract "We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life. He had a family history of dopa-responsive dystonia-parkinsonism. CSF neopterin, biopterin and HVA values were decreased. Molecular study of GCH-1 gene showed the Q89X mutation in exon 1. Treatment with l-dopa resulted in a complete remission of symptoms." @default.
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• W2076662488 date "2007-05-01" @default.
• W2076662488 modified "2023-10-18" @default.
• W2076662488 title "Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency" @default.
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• W2076662488 doi "https://doi.org/10.1016/j.jns.2007.02.007" @default.
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