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Article

[Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2006

Xie Hui, Wu Zhi-ying, Wang Ning, Li Zhi-wen, Lin Min-ting, Murong Shen-xing

Abstract excerpt

OBJECTIVE: To investigate the clinical characteristics and GCH I gene mutations in patients with dopa-responsive dystonia (DRD). METHODS: The clinical features of 3 families with 6 affected members and 8 sporadic cases were analyzed to determine the clinical characteristics, and 2 families with 4...

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PMID: 17044972

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17044972-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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