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.

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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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