Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
European journal of pediatrics2014Haviv R, Zeharia A, Belaiche C, 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
AcidosisAcidosis, LacticAllelesApathyBiomarkersChildChild, PreschoolCitrullineDNA Mutational AnalysisDihydrolipoamide DehydrogenaseDried Blood Spot TestingEarly DiagnosisFemaleGlutamineHumansInfantInfant, NewbornIsraelLethargyMaleMaple Syrup Urine DiseaseNeonatal ScreeningPredictive Value of TestsReference ValuesRetrospective Studies