Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

This publication has 39 references indexed in Scilit:

• Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system
  Molecular Genetics and Metabolism, 2007
• Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations
  New England Journal of Medicine, 2006
• Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure
  European Respiratory Journal, 2006
• VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis
  Molecular Genetics and Metabolism, 2006
• Differential Sensitivity of the Cystic Fibrosis (CF)-associated Mutants G551D and G1349D to Potentiators of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Cl– Channel
  Published by Elsevier ,2006
• Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2004
• MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
  The Journal of Pediatrics, 2003
• Comparative Protein Modelling by Satisfaction of Spatial Restraints
  Journal of Molecular Biology, 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