Biochemical Diagnosis of Genetic Diseases

This publication has 11 references indexed in Scilit:

• Fatty acid oxidation disorders: A new class of metabolic diseases
  The Journal of Pediatrics, 1992
• Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1991
• Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
  The Lancet, 1991
• Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes
  The Journal of Pediatrics, 1991
• Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations
  The Journal of Pediatrics, 1991
• Inborn Errors of Metabolism
  Pediatric Annals, 1990
• Inborn Errors of Metabolism of Acute Onset in Infancy
  Pediatrics in Review, 1990
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency
  New England Journal of Medicine, 1988
• Inborn Errors of Metabolism: The Clinical Diagnosis in Early Infancy
  Pediatrics, 1987
• Registers for inherited metabolic diseases
  Journal of Inherited Metabolic Disease, 1986