Dissecting the spectrum of fatty acid oxidation disorders

This publication has 11 references indexed in Scilit:

• A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
  The Journal of Pediatrics, 1998
• Sudden neonatal death in carnitine transporter deficiency
  The Journal of Pediatrics, 1997
• Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]
  Human Molecular Genetics, 1996
• Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation
  Pediatric Research, 1996
• Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies
  Pediatric Research, 1995
• 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
• Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency
  Pediatric Research, 1994
• Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
  Annals of Neurology, 1991
• Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.
  Journal of Clinical Investigation, 1988
• Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
  Science, 1973