Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
作者信息
Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K
机构信息
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.
出版信息
J Inherit Metab Dis. 2006 Feb;29(1):203-4. doi: 10.1007/s10545-006-0175-5.
PMID:16601893
Abstract
A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.
摘要
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