ZERO WORLD RESEARCHLiterature database on amino acids & organic acids

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

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Study design
Other primary literature
Subject
Human
Publication year
2015
Source
doi.org
Abstract display
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Publication status
Active
Status checked
17 Aug 2026
Collected
3 Aug 2026
Freshness
Current
Review stage
Automated
Record status
Published

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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