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.

Study designOther primary literature

SubjectHuman

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Study design: Other primary literature
Subject: Human
Publication year: 2020
Source: doi.org
Abstract display: Not reproduced here
Publication status: Active
Status checked: 17 Aug 2026
Collected: 3 Aug 2026
Freshness: Current
Review stage: Automated
Record status: Published

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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

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

DOI 10.1016/j.cca.2020.08.027

PMID 32828733

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