Associated Papers
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ et al.
Clinical Genetics, 2023
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.
Jank JM et al.
Plos One, 2014
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
Maier EM et al.
Human Molecular Genetics, 2009
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Maier EM et al.
Human Mutation, 2005
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead WJ
Journal of Inherited Metabolic Disease, 0
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