Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

European journal of pediatrics2005Baumgartner MR, Rabier D, Nassogne MC, 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

Amino Acid Metabolism, Inborn ErrorsArginineCataractChildChild, PreschoolCitrullineFemaleHumansHyperammonemiaMaleMutation, MissenseOrnithinePhenotypeProlinePyrroline Carboxylate Reductasesdelta-1-Pyrroline-5-Carboxylate Reductase

DOI 10.1007/s00431-004-1545-3

PMID 15517380

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