O'Brien WE - Search Results

1

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

2

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. Dhar SU, et al. Mol Genet Metab. 2009 Jan;96(1):38-43. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21. Mol Genet Metab. 2009. PMID: 19027335

3

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B. Scaglia F, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979

4

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.

5

Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.

Wong LJ, Craigen WJ, O'Brien WE. Wong LJ, et al. Ann Intern Med. 1994 Feb 1;120(3):216-7. doi: 10.7326/0003-4819-120-3-199402010-00007. Ann Intern Med. 1994. PMID: 8273985 No abstract available.

6

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Scaglia F, et al. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. doi: 10.1093/jn/134.10.2775S. J Nutr. 2004. PMID: 15465784 Free article. Review.

7

Characterization of the cDNA and the gene encoding murine adenylosuccinate lyase.

Wong LJ, O'Brien WE. Wong LJ, et al. Genomics. 1995 Jul 20;28(2):341-3. doi: 10.1006/geno.1995.1152. Genomics. 1995. PMID: 8530047

8

Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus.

Mian A, McCormack WM Jr, Mane V, Kleppe S, Ng P, Finegold M, O'Brien WE, Rodgers JR, Beaudet AL, Lee B. Mian A, et al. Mol Ther. 2004 Sep;10(3):492-9. doi: 10.1016/j.ymthe.2004.05.036. Mol Ther. 2004. PMID: 15336649 Free article.

9

An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.

Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. Scaglia F, et al. Pediatrics. 2002 Jan;109(1):150-2. doi: 10.1542/peds.109.1.150. Pediatrics. 2002. PMID: 11773558

10

Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.

Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Marini JC, et al. Among authors: o brien we. Am J Clin Nutr. 2011 Jun;93(6):1248-54. doi: 10.3945/ajcn.110.009043. Epub 2011 Apr 13. Am J Clin Nutr. 2011. PMID: 21490144 Free PMC article. Clinical Trial.

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