Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

Human molecular genetics2000Baumgartner MR, Hu CA, Almashanu S, et al.

Study designOther primary literature

SubjectHuman & animal

Abstract

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MeSH

AdultAmino Acid Metabolism, Inborn ErrorsAnimalsArginineCHO CellsCatalytic DomainChildCitrullineCricetinaeDNA Mutational AnalysisFemaleFibroblastsFranceHumansHyperammonemiaMaleMutationOrnithineOrnithine-Oxo-Acid TransaminasePedigreePhenotypeProlineRNA, MessengerTransfection

DOI 10.1093/hmg/9.19.2853

PMID 11092761

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