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Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

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Study Update

Recent Publications

Bassim, C. W. et al., Enamel defects and salivary methylmalonate in methylmalonic acidemia. Oral Dis, 15(3):196-205. 2009. [PubMed]

Chandler, R. J. et al., Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J, 23(4):1252-61. 2008. [PubMed]

Chandler, R. J. and Venditti, C. P., Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther, 19(1):53-60. 2008. [PubMed]

Chandler, R. J. et al., Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. BMC Med Genet, 8:24. 2007. [PubMed]

Chandler, R. J. et al., Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet, 8:64. 2007. [PubMed]

Chandler, R. J. and Venditti, C. P., Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab, 86(1-2):34-43. 2005. [PubMed]

Chandler, R. J. et al., Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. Mol Genet Metab, 89(1-2):64-73. 2006. [PubMed]

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Last Reviewed: July 23, 2009