Stabler S - Search Results

1

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP. Chandler RJ, et al. Among authors: stabler s. BMC Med Genet. 2007 Oct 15;8:64. doi: 10.1186/1471-2350-8-64. BMC Med Genet. 2007. PMID: 17937813 Free PMC article.

2

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.

Chandler RJ, Aswani V, Tsai MS, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP. Chandler RJ, et al. Among authors: stabler s. Mol Genet Metab. 2006 Sep-Oct;89(1-2):64-73. doi: 10.1016/j.ymgme.2006.06.001. Epub 2006 Jul 14. Mol Genet Metab. 2006. PMID: 16843692 Free PMC article.

3

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.

Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ. Mudd SH, et al. Among authors: stabler sp. Mol Genet Metab. 2012 Feb;105(2):228-36. doi: 10.1016/j.ymgme.2011.11.006. Epub 2011 Nov 12. Mol Genet Metab. 2012. PMID: 22137549 Free PMC article.

4

Identification and perturbation of mutant human fibroblasts based on measurements of methylmalonic acid and total homocysteine in the culture media.

Kolhouse JF, Stabler SP, Allen RH. Kolhouse JF, et al. Among authors: stabler sp. Arch Biochem Biophys. 1993 Jun;303(2):355-60. doi: 10.1006/abbi.1993.1295. Arch Biochem Biophys. 1993. PMID: 8099783

5

Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.

Jiang H, Stabler SP, Allen RH, Maclean KN. Jiang H, et al. Mol Genet Metab. 2012 Sep;107(1-2):55-65. doi: 10.1016/j.ymgme.2012.04.025. Epub 2012 May 5. Mol Genet Metab. 2012. PMID: 22633282

6

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

Yaghmai R, Kashani AH, Geraghty MT, Okoh J, Pomper M, Tangerman A, Wagner C, Stabler SP, Allen RH, Mudd SH, Braverman N. Yaghmai R, et al. Among authors: stabler sp. Am J Med Genet. 2002 Feb 15;108(1):57-63. doi: 10.1002/ajmg.10186. Am J Med Genet. 2002. PMID: 11857551

7

Methyl balance and transmethylation fluxes in humans.

Mudd SH, Brosnan JT, Brosnan ME, Jacobs RL, Stabler SP, Allen RH, Vance DE, Wagner C. Mudd SH, et al. Among authors: stabler sp. Am J Clin Nutr. 2007 Jan;85(1):19-25. doi: 10.1093/ajcn/85.1.19. Am J Clin Nutr. 2007. PMID: 17209172 Free article.

8

Elevated methylmalonic acid is related to cognitive impairement in older adults enrolled in an elderly nutrition program.

Lewis MS, Miller LS, Johnson MA, Dolce EB, Allen RH, Stabler SP. Lewis MS, et al. Among authors: stabler sp. J Nutr Elder. 2005;24(3):47-65. doi: 10.1300/J052v24n03_05. J Nutr Elder. 2005. PMID: 15911524

9

Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.

Maclean KN, Jiang H, Greiner LS, Allen RH, Stabler SP. Maclean KN, et al. Among authors: stabler sp. Mol Genet Metab. 2012 Mar;105(3):395-403. doi: 10.1016/j.ymgme.2011.11.190. Epub 2011 Dec 2. Mol Genet Metab. 2012. PMID: 22192524

10

Increased hepatic mitochondrial capacity in rats with hydroxy-cobalamin[c-lactam]-induced methylmalonic aciduria.

Krahenbuhl S, Ray DB, Stabler SP, Allen RH, Brass EP. Krahenbuhl S, et al. Among authors: stabler sp. J Clin Invest. 1990 Dec;86(6):2054-61. doi: 10.1172/JCI114942. J Clin Invest. 1990. PMID: 1701451 Free PMC article.

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