Literature DB >> 1779638

Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.

D Rabier1, B Guillois, J Bardet, C Deprun, P Parvy, P Kamoun.   

Abstract

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Year:  1991        PMID： 1779638     DOI： 10.1007/bf01799965

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

Authors:  D Rabier; A Benoit; F Petit; A Chekoury; J P Bonnefont; J M Saudubray; P Kamoun
Journal:  Clin Chim Acta       Date:  1989-12-29       Impact factor: 3.786

2.  Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.

Authors:  P Briand; B Francois; D Rabier; L Cathelineau
Journal:  Biochim Biophys Acta       Date:  1982-05-21
  2 in total
  1 in total

1.  Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.

Authors:  P M Davies; L D Fairbanks; J A Duley; H A Simmonds
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982
  1 in total

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