ZERO WORLD RESEARCHLiterature database on amino acids & organic acids

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

Record checks

Study design
Other primary literature
Subject
Human & animal
Publication year
2000
Source
doi.org
Abstract display
Not reproduced here
Publication status
Active
Status checked
17 Aug 2026
Collected
13 Aug 2026
Freshness
Current
Review stage
Automated
Record status
Published

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

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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