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

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