A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: An adult case

This publication has 17 references indexed in Scilit:

• A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase
  Biochemical and Biophysical Research Communications, 1993
• Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
  Journal of Clinical Investigation, 1992
• Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases
  Biochemical Pharmacology, 1991
• Electron transfer flavoprotein
  Neurology, 1990
• Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy
  Annals of Neurology, 1989
• The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.
  Journal of Clinical Investigation, 1986
• Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother
  The Journal of Pediatrics, 1983
• Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult
  New England Journal of Medicine, 1979
• Characteristics of cell lines derived from human leukocytes transformed by different strains of epstein‐barr virus
  International Journal of Cancer, 1975
• Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome
  Science, 1973