Literature DB >> 2575689

3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.

H Nagasawa1, S Yamaguchi, T Orii, R B Schutgens, L Sweetman, T Hashimoto.   

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Year:  1989        PMID： 2575689     DOI： 10.1007/bf01799244

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


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  11 in total

1.  Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.

Authors:  H Towbin; T Staehelin; J Gordon
Journal:  Proc Natl Acad Sci U S A       Date:  1979-09       Impact factor: 11.205

2.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

3.  Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  A "new" disorder of isoleucine catabolism.

Authors:  R S Daum; P H Lamm; O A Mamer; C R Scriver
Journal:  Lancet       Date:  1971-12-11       Impact factor: 79.321

5.  Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Authors:  R B Schutgens; B Middleton; J F vd Blij; J W Oorthuys; H A Veder; T Vulsma; W H Tegelaers
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

6.  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

7.  The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes.

Authors:  S Miyazawa; T Osumi; T Hashimoto
Journal:  Eur J Biochem       Date:  1980-02

8.  The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.

Authors:  B Middleton; K Bartlett
Journal:  Clin Chim Acta       Date:  1983-03-14       Impact factor: 3.786

9.  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

10.  Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808
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