Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

European journal of pediatrics2014Haviv R, Zeharia A, Belaiche C, et al.

Study designOther primary literature

SubjectHuman

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Study design: Other primary literature
Subject: Human
Publication year: 2014
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

AcidosisAcidosis, LacticAllelesApathyBiomarkersChildChild, PreschoolCitrullineDNA Mutational AnalysisDihydrolipoamide DehydrogenaseDried Blood Spot TestingEarly DiagnosisFemaleGlutamineHumansInfantInfant, NewbornIsraelLethargyMaleMaple Syrup Urine DiseaseNeonatal ScreeningPredictive Value of TestsReference ValuesRetrospective Studies

DOI 10.1007/s00431-013-2153-x

PMID 23995961

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