NovelGCH1mutation in a Brazilian family with dopa-responsive dystonia
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference13 articles.
1. Hereditary progressive dystonia with marked diurnal fluctuation;Segawa;Adv Neurol,1976
2. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family;Nygaard;Neurology,1990
3. GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism;Ichinose;Neurosci Lett,1995
4. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase. I. Relationship to etiology of dopa-responsive dystonia;Suzuki;J Neurochem,1999
5. Dopa-responsive dystonia in British patients-new mutations of the GTP cyclohydrolase I gene and evidence for genetic heterogeneity;Bandmann;Hum Mol Genet,1996
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3. Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome;Pediatrics;2022-01-27
4. Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH;Medical Science Monitor;2018-02-06
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