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• Charles Venditti

Charles P. Venditti, M.D., Ph.D.

Investigator, Genetics and Molecular Biology Branch
Head, Organic Acid Research Section

Selected Publications

Venditti LN, Venditti CP, Berry GT, Kaplan PB, Kaye EM, Glick H, Stanley CA. Newborn screening by tandem mass spectrometry for medium-chain acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics, 112:1005-1015. 2003. [PubMed]

Venditti CP, Harris MC, Huff D, Peterside I, Munson D, Weber HS, Rome J, Kaye EM, Shanske S, Sacconi S,Tay S, DiMauro S, Berry GT. Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. J Inherit Metab Dis, 27:735-739. 2004. [PubMed]

Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab, 86:34-43. 2005. [PubMed]

Chandler RJ, Aswani V, Tsai M, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. Mol Genet Metab, 89:64-73. 2006. [PubMed]

Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. BMC Med Genet, 8:24. 2007. [PubMed]

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet, 8:64. 2007. [PubMed]

Chandler RJ, Venditti CP. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut⁰ methylmalonic acidemia. Hum Gene Ther, 19:53-60. 2008. [PubMed]

Venditti CP. Elevated C3 carnitine in a healthy premature infant. Clin Chem, 54: 1917-1918. 2008. [Full Text]

Bassim CW, Wright JT, Guadagnini JP, Muralidharan R, Sloan J, Domingo DL, Venditti CP, Hart TC. Enamel defects and salivary methylmalonate in methylmalonic acidemia. Oral Dis, 15(3):196-205. 2009. [PubMed]

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J, 23(4):1252-61. 2009. [PubMed]

Books

Venditti CP. Methylmalonic acidemia. In: GeneReviews at GeneTests, Unversity of Washington, Seattle: Medical Genetics Information Resource, 2005. [Full Text]

Adams D, Venditti CP. Disorders of intracellular cobalamin metabolism. In: GeneReviews at GeneTests, Unversity of Washington, Seattle: Medical Genetics Information Resource, 2008. [Full Text]

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Last Reviewed: August 29, 2009