Molecular basis of 3‐ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl‐CoA thiolase

This publication has 13 references indexed in Scilit:

• Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency
  Published by Elsevier ,2004
• Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
  Journal of Clinical Investigation, 1992
• Optimization of Electroporation for Transfection of Human Fibroblast Cell Lines with Origin-Defective SV40 DNA: Development of Human Transformed Fibroblast Cell Lines with Mucopolysaccharidoses (I-VII).
  Cell Structure and Function, 1992
• Efficient selection for high-expression transfectants with a novel eukaryotic vector
  Gene, 1991
• Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
  Journal of Clinical Investigation, 1990
• Heterogeneity of Defects in Mitochondrial Acetoacetyl-CoA Thiolase Biosynthesis in Fibroblasts from Four Patients with 3-Ketothiolase Deficiency
  Pediatric Research, 1989
• Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
  Journal of Clinical Investigation, 1988
• Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism
  The Journal of Pediatrics, 1979
• The oxoacyl-coenzyme A thiolases of animal tissues
  Biochemical Journal, 1973
• A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
  The Lancet, 1971