Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.

Journal of inherited metabolic disease2015Wang XL, Li CJ, Xing Y, et al.

Study designOther primary literature

SubjectHuman

Abstract

cc by 以外（cc by-nc / cc by-nc-nd / NONE 等）は抄録を再掲しない。DOI/PMID へのリンクのみ表示する。

MeSH

AdultAmino Acid Metabolism, Inborn ErrorsAmino Acids, Branched-ChainBase SequenceHumansIntellectual DisabilityMaleMaple Syrup Urine DiseaseMinor Histocompatibility AntigensMolecular Sequence DataMutation, MissensePregnancy ProteinsSeizuresTransaminasesValine

DOI 10.1007/s10545-015-9814-z

PMID 25653144

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