Literature DB >> 12014391

A risk factor for chronic mild hyperammonaemia.

Pierre Kamoun, Daniel Rabier, Jean-Marie Saudubray.   

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Year:  2002        PMID: 12014391     DOI: 10.1007/s00431-002-0926-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


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  3 in total

1.  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.

Authors:  M R Baumgartner; C A Hu; S Almashanu; G Steel; C Obie; B Aral; D Rabier; P Kamoun; J M Saudubray; D Valle
Journal:  Hum Mol Genet       Date:  2000-11-22       Impact factor: 6.150

2.  [A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].

Authors:  P Kamoun; B Aral; J M Saudubray
Journal:  Bull Acad Natl Med       Date:  1998       Impact factor: 0.144

3.  Enzymological evidence for the indispensability of small intestine in the synthesis of arginine from glutamate. I. Pyrroline-5-carboxylate synthase.

Authors:  Y Wakabayashi; E Yamada; T Hasegawa; R Yamada
Journal:  Arch Biochem Biophys       Date:  1991-11-15       Impact factor: 4.013

  3 in total

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