Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.

Clinica chimica acta; international journal of clinical chemistry2020Lee T, Yoshii K, Yoshida S, et al.

研究デザインその他の原著論文

対象ヒト

抄録

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

CitrullineHumansInfant, NewbornNeonatal ScreeningOrnithine CarbamoyltransferaseOrnithine Carbamoyltransferase Deficiency DiseaseProspective StudiesRetrospective StudiesTandem Mass Spectrometry

DOI 10.1016/j.cca.2020.08.027

PMID 32828733

原文・出典を見る →