Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome

This publication has 11 references indexed in Scilit:

• Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency
  The Journal of Pediatrics, 1992
• Deficiency of the α and β subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
  European Journal of Pediatrics, 1990
• The pharmacology of dichloroacetate
  Metabolism, 1989
• Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction
  European Journal of Pediatrics, 1986
• A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q
  European Journal of Pediatrics, 1986
• Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid
  The Journal of Pediatrics, 1984
• 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
• Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency
  European Journal of Pediatrics, 1981
• The Genetic Heterogeneity of Lactic Acidosis: Occurrence of Recognizable Inborn Errors of Metabolism in a Pediatric Population with Lactic Acidosis
  Pediatric Research, 1980
• Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy
  Pediatric Research, 1977