The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia-Reference-Cited by-同舟云学术

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

Published:2008-11-15 Issue:22 Volume:146A Page:2885-2890
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dimmock David P.,Trapane Pamela,Feigenbaum Annette,Keegan Catherine E.,Cederbaum Stephen,Gibson James,Gambello Michael J.,Vaux Keith,Ward Patricia,Rice Gregory M.,Wolff Jon A.,O'Brien William E.,Fang Ping

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

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4. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1);Haberle;Mol Genet Metab,2003

5. A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene;Ito;J Gastroenterol,2004

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