Lipoamide Dehydrogenase Deficiency Due to a Novel Mutation in the Interface Domain

This publication has 26 references indexed in Scilit:

• Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews
  American Journal of Medical Genetics, 1999
• Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults
  Journal of Hepatology, 1998
• Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del)
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1997
• Liver Disease in the Ashkenazi-Jewish Lipoamide Dehydrogenase Deficiency
  Journal of Pediatric Gastroenterology and Nutrition, 1997
• Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria
  Muscle & Nerve, 1997
• Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence
  Human Mutation, 1997
• Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency
  Human Molecular Genetics, 1996
• Functional analysis in Saccharomyces cerevisiae of naturally occurring amino acid substitutions in human dihydrolipoamide dehydrogenase
  Human Molecular Genetics, 1996
• Leigh disease with deficiency of lipoamide dehydrogenase: Treatment failure with dichloroacetate
  Pediatric Neurology, 1996
• Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
  Proceedings of the National Academy of Sciences, 1993