Literature DB >> 7254348

Treating urea cycle defects.

V Rubio, S Grisolía.   

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Year:  1981        PMID: 7254348     DOI: 10.1038/292496a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


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  5 in total

1.  Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.

Authors:  Sébastien Lévesque; Marie Lambert; Aspasia Karalis; Serge Melancon; Laura Russell; Nancy Braverman
Journal:  JIMD Rep       Date:  2011-09-06

2.  Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

Authors:  Peter Gessler; Peter Buchal; Hans U Schwenk; Bendicht Wermuth
Journal:  Eur J Pediatr       Date:  2009-06-17       Impact factor: 3.183

3.  N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

Authors:  Mendel Tuchman; Ljubica Caldovic; Yevgeny Daikhin; Oksana Horyn; Ilana Nissim; Itzhak Nissim; Mark Korson; Barbara Burton; Marc Yudkoff
Journal:  Pediatr Res       Date:  2008-08       Impact factor: 3.756

Review 4.  N-acetylglutamate and its changing role through evolution.

Authors:  Ljubica Caldovic; Mendel Tuchman
Journal:  Biochem J       Date:  2003-06-01       Impact factor: 3.857

5.  N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.

Authors:  Sufin Yap; Nadine Gougeard; Anthony R Hart; Belén Barcelona; Vicente Rubio
Journal:  JIMD Rep       Date:  2019-05-02
  5 in total

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