Venditti CP - Search Results

1

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP. Brooks BP, et al. Among authors: venditti cp. Ophthalmology. 2016 Mar;123(3):571-82. doi: 10.1016/j.ophtha.2015.10.041. Epub 2016 Jan 26. Ophthalmology. 2016. PMID: 26825575 Free PMC article.

2

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.

Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP. Chandler RJ, et al. Among authors: venditti cp. BMC Med Genet. 2007 Apr 30;8:24. doi: 10.1186/1471-2350-8-24. BMC Med Genet. 2007. PMID: 17470278 Free PMC article.

3

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: venditti cp. BMC Med Genet. 2007 Oct 15;8:64. doi: 10.1186/1471-2350-8-64. BMC Med Genet. 2007. PMID: 17937813 Free PMC article.

4

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Chandler RJ, et al. Among authors: venditti cp. FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16. FASEB J. 2009. PMID: 19088183 Free PMC article.

5

Enamel defects and salivary methylmalonate in methylmalonic acidemia.

Bassim CW, Wright JT, Guadagnini JP, Muralidharan R, Sloan J, Domingo DL, Venditti CP, Hart TC. Bassim CW, et al. Among authors: venditti cp. Oral Dis. 2009 Apr;15(3):196-205. doi: 10.1111/j.1601-0825.2008.01509.x. Epub 2009 Jan 9. Oral Dis. 2009. PMID: 19143946 Free PMC article.

6

Hydroxocobalamin dose escalation improves metabolic control in cblC.

Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Carrillo-Carrasco N, et al. Among authors: venditti cp. J Inherit Metab Dis. 2009 Dec;32(6):728-731. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821145 Free PMC article.

7

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.

Carrillo-Carrasco N, Chandler RJ, Chandrasekaran S, Venditti CP. Carrillo-Carrasco N, et al. Among authors: venditti cp. Hum Gene Ther. 2010 Sep;21(9):1147-54. doi: 10.1089/hum.2010.008. Hum Gene Ther. 2010. PMID: 20486773 Free PMC article.

8

Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.

Chandler RJ, Chandrasekaran S, Carrillo-Carrasco N, Senac JS, Hofherr SE, Barry MA, Venditti CP. Chandler RJ, et al. Among authors: venditti cp. Hum Gene Ther. 2011 Apr;22(4):477-81. doi: 10.1089/hum.2010.164. Epub 2011 Feb 16. Hum Gene Ther. 2011. PMID: 20950151 Free PMC article.

9

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Hauser NS, et al. Among authors: venditti cp. Am J Clin Nutr. 2011 Jan;93(1):47-56. doi: 10.3945/ajcn.110.004341. Epub 2010 Nov 3. Am J Clin Nutr. 2011. PMID: 21048060 Free PMC article.

10

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Carrillo-Carrasco N, Venditti CP. Carrillo-Carrasco N, et al. Among authors: venditti cp. J Inherit Metab Dis. 2012 Jan;35(1):103-14. doi: 10.1007/s10545-011-9365-x. Epub 2011 Jul 12. J Inherit Metab Dis. 2012. PMID: 21748408 Free PMC article. Review.

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