O'Brien WE - Search Results

1

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. Dimmock DP, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2885-90. doi: 10.1002/ajmg.a.32527. Am J Med Genet A. 2008. PMID: 18925679 Free PMC article.

2

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, 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. Dimmock D, et al. Among authors: o brien we. Hum Genet. 2009 Aug;126(2):341. Hum Genet. 2009. PMID: 19694025 No abstract available.

3

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock D, 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. Dimmock D, et al. Among authors: o brien we. Hum Genet. 2009 Aug;126(2):342. Hum Genet. 2009. PMID: 19694026 No abstract available.

4

Citrin deficiency, a perplexing global disorder.

Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Dimmock D, et al. Among authors: o brien we. Mol Genet Metab. 2009 Jan;96(1):44-9. doi: 10.1016/j.ymgme.2008.10.007. Epub 2008 Nov 25. Mol Genet Metab. 2009. PMID: 19036621

5

Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.

Patejunas G, Bradley A, Beaudet AL, O'Brien WE. Patejunas G, et al. Somat Cell Mol Genet. 1994 Jan;20(1):55-60. doi: 10.1007/BF02257486. Somat Cell Mol Genet. 1994. PMID: 8197477

6

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.

Lee B, Dennis JA, Healy PJ, Mull B, Pastore L, Yu H, Aguilar-Cordova E, O'Brien W, Reeds P, Beaudet AL. Lee B, et al. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3981-6. doi: 10.1073/pnas.96.7.3981. Proc Natl Acad Sci U S A. 1999. PMID: 10097149 Free PMC article.

7

Additional mutations in argininosuccinate synthetase causing citrullinemia.

Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE. Kobayashi K, et al. Mol Biol Med. 1991 Feb;8(1):95-100. Mol Biol Med. 1991. PMID: 1943692

8

Evaluation of gene therapy for citrullinaemia using murine and bovine models.

Patejunas G, Lee B, Dennis JA, Healy PJ, Reeds PJ, Yu H, Frazer M, Mull B, Warman AW, Beaudet AL, O'Brien WE. Patejunas G, et al. J Inherit Metab Dis. 1998;21 Suppl 1:138-50. doi: 10.1023/a:1005322010854. J Inherit Metab Dis. 1998. PMID: 9686351

9

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL. Kobayashi K, et al. J Biol Chem. 1990 Jul 5;265(19):11361-7. J Biol Chem. 1990. PMID: 2358466 Free article.

10

Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis.

Northrup H, Beaudet AL, O'Brien WE. Northrup H, et al. Prenat Diagn. 1990 Dec;10(12):771-9. doi: 10.1002/pd.1970101203. Prenat Diagn. 1990. PMID: 2075179

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