A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000

This publication has 21 references indexed in Scilit:

• Inborn Errors of Mitochondrial Fatty Acid Oxidation
  Critical Reviews in Clinical Laboratory Sciences, 2000
• Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
  Archives of Disease in Childhood, 1999
• Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium
  Acta Paediatrica, 1999
• Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency
  The American Journal of Human Genetics, 1999
• A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase
  Biochemical and Biophysical Research Communications, 1993
• Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
• Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
  The Lancet, 1991
• Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency and Sudden Infant Death
  New England Journal of Medicine, 1991
• Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
  Biochemical and Biophysical Research Communications, 1990
• Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes
  The Journal of Pediatrics, 1986