Literature DB >> 3126364

beta-Ketothiolase deficiency with favourable evolution.

G Sabetta1, C Bachmann, O Giardini, M Castro, M Gambarara, C D Vici, K Bartlett, B Middleton.   

Abstract

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Year:  1987        PMID： 3126364     DOI： 10.1007/bf01799988

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


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  3 in total

1.  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

2.  Organic acids in urine: sample preparation for GC/MS.

Authors:  C Bachmann; R Bühlmann; J P Colombo
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  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
  3 in total
  3 in total

1.  Perioperative concerns in a beta-ketothiolase-deficient child.

Authors:  Ravinder Pandey; P M Singh; Rakesh Garg; V Darlong; J Punj
Journal:  J Anesth       Date:  2015-01-07       Impact factor: 2.078

Review 2.  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

3.  2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.

Authors:  Sarah C Grünert; Jörn Oliver Sass
Journal:  Orphanet J Rare Dis       Date:  2020-04-28       Impact factor: 4.123
  3 in total

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