Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To Biallelic Variants.
作者信息
Martorell Loreto, Macaya Alfons, Pérez-Dueñas Belén, Ortigoza-Escobar Juan Darío
机构信息
Department of Genetic and Molecular Medicine-IPER Institut de Recerca Sant Joan de Déu Barcelona Spain.
Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain.
出版信息
Mov Disord Clin Pract. 2022 Aug 22;9(7):979-982. doi: 10.1002/mdc3.13528. eCollection 2022 Oct.
Abstract
摘要
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