Literature DB >> 4434646

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

D Gompertz, J M Saudubray, C Charpentier, K Bartlett, P A Goodey, G H Draffan.   

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Year:  1974        PMID： 4434646     DOI： 10.1016/0009-8981(74)90407-0

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  12 in total

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

Authors:  O Søvik; J M Saudubray; A Munnich; L Sweetman
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

3.  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

4.  Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.

Authors:  O A Mamer; S S Tjoa; C R Scriver; G A Klassen
Journal:  Biochem J       Date:  1976-12-15       Impact factor: 3.857

5.  Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.

Authors:  M Duran; L Bruinvis; D Ketting; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

Review 6.  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

7.  Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.

Authors:  H Przyrembel; H J Bremer; M Duran; L Bruinvis; D Ketting; S K Wadman; R Baumgartner; U Irle; C Bachmann
Journal:  Eur J Pediatr       Date:  1979-01-18       Impact factor: 3.183

8.  Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.

Authors:  S Aramaki; D Lehotay; L Sweetman; W L Nyhan; S C Winter; B Middleton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

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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