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
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S et al.
Journal of Inherited Metabolic Disease, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Genetic structure, polymorphism identification of LGP2 gene and their relationship with the resistance/susceptibility to GCRV in grass carp, Ctenopharyngodon idella.
Wan Q et al.
Gene, 2013
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
Anderson S et al.
American Journal of Medical Genetics. Part A, 2012
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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