Article
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Human molecular genetics - 1 May 1997
Andresen B S, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey J P, Saudubray J M, Hale D E, Bolund L, Kølvraa S, Gregersen N
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of mitochondrial beta-oxidation. It is potentially fatal, but shows a wide clinical spectrum. The aim of the present study was to investigate whether any correlation exists between MCAD genotype and disea...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Adolescent
- Alleles
- Blotting, Western
- Chaperonin 10
- Chaperonin 60
- Child
- Child, Preschool
- Enzyme Activation
- Escherichia coli
- Exons
- Female