Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Journal of inherited metabolic disease2019Knerr I, Colombo R, Urquhart J, 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

AdolescentAdultAmino Acid Metabolism, Inborn ErrorsAmino Acids, Branched-ChainBrainChildChild, PreschoolFemaleHomozygoteHumansMagnetic Resonance ImagingMaleMinor Histocompatibility AntigensMitochondriaMutationPhenotypePregnancy ProteinsTransaminases

DOI 10.1002/jimd.12135

PMID 31177572

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