Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

This publication has 63 references indexed in Scilit:

• Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
  American Journal of Human Genetics, 1997
• The Mitochondrial Carnitine Palmitoyltransferase System — From Concept to Molecular Analysis
  European Journal of Biochemistry, 1997
• The mutational spectrum in very long‐chain acyl‐CoA dehydrogenase deficiency
  Journal of Inherited Metabolic Disease, 1996
• Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course
  Journal of Inherited Metabolic Disease, 1996
• Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein
  Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
• Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
• A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase
  Biochemical and Biophysical Research Communications, 1993
• A comparison of [9,10‐³H]palmitic and [9,10‐³H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts
  Journal of Inherited Metabolic Disease, 1989
• Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts
  Biochemical Medicine, 1985
• Molecular basis of base substitution hotspots in Escherichia coli
  Nature, 1978