Carrier detection in ornithine transcarbamylase deficiency
Hokanson, J.T.; O'brien, W.E.; Idemoto, J.; Schafer, I.A.
Journal of Pediatrics 93(1): 75-78
1978
ISSN/ISBN: 0022-3476 PMID: 650350 Document Number: 130988
A new technique for carrier detection in the X-linked ornithine transcarbamylase deficiency is presented for use in an affected family. Oral protein load followed by blood and urinary assays of ammonia, orotic acid and urea cycle enzymes is described. This technique replaces older invasive liver and intestinal biopsies.
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