article_metadata: Ahmed Bouhouche Leila Tamaoui Nazha Birouk
article_metadata: 10.11604/pamj.2024.47.159.36397
article_metadata: Pan Afr Med J
article_metadata: 2024 Apr 3:47:159.
article_metadata: dopa-responsive dystonia gch1 gene case report de novo non-sense mutation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38974698/
article_metadata: Dystonic Disorders / drug therapy Dystonic Disorders / genetics GTP Cyclohydrolase / genetics
article_metadata: Dystonic Disorders / drug therapy Dystonic Disorders / genetics GTP Cyclohydrolase / genetics Case Reports Codon, Nonsense Female Humans Male Morocco Mutation GTP Cyclohydrolase GCH1 protein, human Codon, Nonsense Dystonia, Dopa-responsive
article_metadata: PMC11226765
article_metadata: 38974698
article_metadata: De novo p.Glu61Ter mutation in GCH1 in a Moroccan patient with dopa-responsive dystonia: a case report
article_metadata: 2024