Associated Papers
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
Touw CM et al.
Orphanet Journal of Rare Diseases, 2013
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
ter Veld F et al.
Plos One, 2009
Mitochondrial fatty acid oxidation defects--remaining challenges.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2008
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS et al.
American Journal of Human Genetics, 2001
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