Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02435976
Reference7 articles.
1. Coudé FX, Grimber G, Parvy P, Pham Ding D, Bardet J, Saudubray J-M (1983) Characterization of enzymatic deficiencies of branched chain amino-acid metabolism in human fibroblasts by genetic complementation.Biochem Biophys Res Commun 114: 175–182.
2. Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm P, Goldman H (1973) An inherited disorder of isoleucine catabolism causing accumulation of α-methylacetoacetate and α-methyl-β-hydroxybutyrate, and intermittent metabolic acidosis.Pediatr Res 7: 149–160.
3. Gompertz D, Saudubray J-M, Charpentier C, Bartlett K, Goodey PA, Draffan GH (1974) A defect inl-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: Quantitative in vivo and in vitro studies.Clin Chim Acta 57: 269–281.
4. Iden P, Middleton B, Robinson BH et al (1990) 3-Oxothiolase activities and (14C)-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency.Pediatr Res 28: 518–522.
5. Middleton B, Bartlett K, Romanos A et al (1986) 3-Ketothiolase deficiency.Eur J Pediatr 144: 586–589.
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1. Peroxisomes in human fibroblasts have a basic pH;Nature Cell Biology;1999-12-10
2. Ketolysis Defects;Inborn Metabolic Diseases;1995
3. Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families;Human Mutation;1993
4. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism;Journal of Inherited Metabolic Disease;1993
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