Isolated and Combined Deficiencies of the α‐Keto Acid Dehydrogenase Complexes^a

This publication has 27 references indexed in Scilit:

• Identification of a cDNA clone for the β-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex
  Biochemical and Biophysical Research Communications, 1988
• Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex
  The Journal of Pediatrics, 1987
• Isolation of a cDNA clone for the dihydrolipoamide acetyltransferase component of the human liver pyruvate dehydrogenase complex
  Biochemical and Biophysical Research Communications, 1987
• Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.
  Journal of Clinical Investigation, 1986
• Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined α-ketoacid dehydrogenase deficiency
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1985
• Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid
  The Journal of Pediatrics, 1984
• Dihydropteridine reductase deficiency: Non‐response to oral tetrahydrobiopterin load test
  Journal of Inherited Metabolic Disease, 1983
• Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1983
• Mitochondrial 2-oxoacid dehydrogenase complexes of animal tissues
  Philosophical Transactions of the Royal Society of London. B, Biological Sciences, 1983
• CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY
  Acta Paediatrica, 1982