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References

These sources were used to develop the Genetics Home Reference gene summary on the ACADM gene.

Entrez Gene
Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep;18(3):169-89. Review. PubMed citation
Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May;121(5):e1108-14. doi: 10.1542/peds.2007-1993. PubMed citation
Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18. PubMed citation
Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005 May;25(5):443-52. PubMed citation
OMIM: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN
Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab. 2006 Jan;87(1):32-9. Epub 2005 Nov 15. PubMed citation
Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec;1(7):332-9. PubMed citation


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