Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Παρόμοια τεκμήρια

• A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
  ανά: Touma, E, κ.ά.
  Έκδοση: (2001)
• A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)
  ανά: Andresen, Brage Storstein, κ.ά.
  Έκδοση: (1993)
• Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism
  ανά: Andresen, Brage Storstein, κ.ά.
  Έκδοση: (2000)
• Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
  ανά: Schmidt, Stinne P., κ.ά.
  Έκδοση: (2010)
• Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene
  ανά: Andresen, Brage Storstein, κ.ά.
  Έκδοση: (1994)