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Items: 7


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

Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Am J Med Genet A. 2008 Nov 15;146A(22):2885-90. doi: 10.1002/ajmg.a.32527. Erratum in: Am J Med Genet A. 2010 Apr;152A(4):1061.


A search for the primary abnormality in adult-onset type II citrullinemia.

Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T.

Am J Hum Genet. 1993 Nov;53(5):1024-30.


Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

Kobayashi K, Shaheen N, Terazono H, Saheki T.

Am J Hum Genet. 1994 Dec;55(6):1103-12. Erratum in: Am J Hum Genet. 1995 Jan;56(1):356.


Sequence for human argininosuccinate synthetase cDNA.

Bock HG, Su TS, O'Brien WE, Beaudet AL.

Nucleic Acids Res. 1983 Sep 24;11(18):6505-12.


Messenger RNA coding for argininosuccinate synthetase in citrullinemia.

Kobayashi K, Saheki T, Imamura Y, Noda T, Inoue I, Matuo S, Hagihara S, Nomiyama H, Jinno Y, Shimada K.

Am J Hum Genet. 1986 May;38(5):667-80.


Molecular definition of bovine argininosuccinate synthetase deficiency.

Dennis JA, Healy PJ, Beaudet AL, O'Brien WE.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7947-51.

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