Literature DB >> 1405470

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.

O Søvik1, J M Saudubray, A Munnich, L Sweetman.   

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Year:  1992        PMID： 1405470     DOI： 10.1007/bf02435976

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

Authors:  D Gompertz; J M Saudubray; C Charpentier; K Bartlett; P A Goodey; G H Draffan
Journal:  Clin Chim Acta       Date:  1974-12-17       Impact factor: 3.786

2.  An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.

Authors:  R S Daum; C R Scriver; O A Mamer; E Delvin; P Lamm; H Goldman
Journal:  Pediatr Res       Date:  1973-03       Impact factor: 3.756

3.  A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies.

Authors:  P V Nelson; W F Carey
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.

Authors:  B H Robinson; W G Sherwood; J Taylor; J W Balfe; O A Mamer
Journal:  J Pediatr       Date:  1979-08       Impact factor: 4.406

5.  3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency.

Authors:  P Iden; B Middleton; B H Robinson; W G Sherwood; K M Gibson; L Sweetman; O Søvik
Journal:  Pediatr Res       Date:  1990-11       Impact factor: 3.756

6.  Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation.

Authors:  F X Coudé; G Grimber; P Parvy; D Pham Dinh; J Bardet; J M Saudubray
Journal:  Biochem Biophys Res Commun       Date:  1983-07-18       Impact factor: 3.575

7.  3-Ketothiolase deficiency.

Authors:  B Middleton; K Bartlett; A Romanos; J Gomez Vazquez; C Conde; R A Cannon; M Lipson; L Sweetman; W L Nyhan
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
  7 in total
  1 in total

Review 1.  Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors:  O Søvik
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  1 in total

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