The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults.
作者信息
Mainka Tina, Ziagaki Athanasia, de Koning Tom J, Kühn Andrea A, Ganos Christos
机构信息
Department of Neurology Charité University Medicine Berlin Berlin Germany.
Berlin Institute of Health Berlin Germany.
出版信息
Mov Disord Clin Pract. 2020 Sep 30;7(8):1004-1006. doi: 10.1002/mdc3.13092. eCollection 2020 Nov.
Abstract
摘要
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本文引用的文献
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J Inherit Metab Dis. 2009 Apr;32(2):135-42. doi: 10.1007/s10545-008-1042-3. Epub 2008 Nov 21.
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L-2-hydroxyglutaric aciduria: a report of 29 patients.L-2-羟基戊二酸尿症：29例患者的报告。
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