Carter S - Search Results

1

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.

Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC; Members of the Urea Cycle Disorders Consortium; Lee B. Nagamani SC, et al. Among authors: carter s. Mol Genet Metab. 2012 Nov;107(3):315-21. doi: 10.1016/j.ymgme.2012.09.016. Epub 2012 Sep 17. Mol Genet Metab. 2012. PMID: 23040521 Free PMC article. Clinical Trial.

2

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. Among authors: carter s. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979

3

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. Among authors: carter s. 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.

4

Generalized metabolic bone disease in Neurofibromatosis type I.

Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Brunetti-Pierri N, et al. Among authors: carter s. Mol Genet Metab. 2008 May;94(1):105-11. doi: 10.1016/j.ymgme.2007.12.004. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289904 Free PMC article.

5

Heritability of plasma amino acid levels in different nutritional states.

McBride KL, Belmont JW, O'Brien WE, Amin TJ, Carter S, Lee BH. McBride KL, et al. Among authors: carter s. Mol Genet Metab. 2007 Feb;90(2):217-20. doi: 10.1016/j.ymgme.2006.08.010. Epub 2006 Sep 26. Mol Genet Metab. 2007. PMID: 17005426

6

Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.

McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B. McBride KL, et al. Among authors: carter s. Pediatrics. 2004 Oct;114(4):e523-6. doi: 10.1542/peds.2004-0198. Pediatrics. 2004. PMID: 15466081

7

RMRP mutations in cartilage-hair hypoplasia.

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. Among authors: carter s. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331. Am J Med Genet A. 2006. PMID: 16838329

8

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Bourn D, Carter SA, Mason S, Gareth D, Evans R, Strachan T. Bourn D, et al. Among authors: carter sa. Hum Mol Genet. 1994 May;3(5):813-6. doi: 10.1093/hmg/3.5.813. Hum Mol Genet. 1994. PMID: 8081368

9

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Inglehearn CF, Carter SA, Keen TJ, Lindsey J, Stephenson AM, Bashir R, al-Maghtheh M, Moore AT, Jay M, Bird AC, et al. Inglehearn CF, et al. Among authors: carter sa. Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51. Nat Genet. 1993. PMID: 8513323

10

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A. Sakuntabhai A, et al. Among authors: carter s. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178

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