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J Inherit Metab Dis. 2006 Feb;29(1):203-4.

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

Author information

1
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. claude.sansaricq@mssm.edu

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.

PMID:
16601893
DOI:
10.1007/s10545-006-0175-5
[Indexed for MEDLINE]

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