Ontology type: schema:ScholarlyArticle
1974-09
AUTHORSJ. P. Farriaux, J. L. Dhondt, L. Cathelineau, J. Ratel, G. Fontaine
ABSTRACTA new case of deficiency of ornithine-carbamyl transferase is reported. To the best of our knowledge, this is the 23rd case (10th case in a male). This new case is conventional as far as the clinical and biological data are concerned. Nevertheless, an original feature must be noted: The enzyme deficiency, while large (2% of the normal), is clinically well tolerated at the age of 9 months with a simple restriction of proteins. A review of the literature shows, in fact, that the other male children showing a deficiency below 5% of normal have all died in the post natal period. More... »
PAGES231-247
http://scigraph.springernature.com/pub.10.1007/bf00464614
DOIhttp://dx.doi.org/10.1007/bf00464614
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/4446691
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