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  • Title: Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
    Author: Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K.
    Journal: J Inherit Metab Dis; 2006 Feb; 29(1):203-4. PubMed ID: 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.
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