Literature DB >> 6150117

A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities.

R G Gray, G W Lowther, J M Littlewood, B Middleton, M J Bennett.   

Abstract

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Year:  1984        PMID： 6150117      PMCID： PMC1049330          DOI： 10.1136/jmg.21.5.397

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  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

2.  Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

Authors:  L Tiepolo; O Zuffardi; M Fraccaro; D di Natale; L Gargantini; C R Müller; H H Ropers
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  2 in total
  1 in total

1.  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
  1 in total

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