ロード中...

Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene

OBJECTIVE—Hereditary progressive dystonia with pronounced diurnal fluctuation ((HPD)/dopa responsive dystonia (DRD)) is a childhood onset dystonia which responds to levodopa. Various clinical signs and symptoms of HPD/DRD have been recognised to date. Mutations in the GTP cyclohydrolase I (GTP-CH-I)...

詳細記述

保存先:
書誌詳細
主要な著者: Tamaru, Y., Hirano, M., Ito, H., Kawamura, J., Matsumoto, S., Imai, T., Ueno, S.
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 1998
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170031/
https://ncbi.nlm.nih.gov/pubmed/9576537
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!