Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant.

Clinica chimica acta; international journal of clinical chemistry2025Narasimhan M, Cao J, Jones PM

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

Calcium-Binding ProteinsCitrullineCitrullinemiaFemaleFrameshift MutationHumansInfant, NewbornMitochondrial Membrane Transport ProteinsOrganic Anion Transporters

DOI 10.1016/j.cca.2024.120109

PMID 39800183

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