Literature DB >> 11117436

A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

G Renom1, M Fontaine, M O Rolland, J Duprey, P M Degand, D Dobbelaere.   

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Year:  2000        PMID: 11117436     DOI: 10.1023/a:1005655619236

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


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  2 in total

1.  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

2.  A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.

Authors:  K M Gibson; C F Lee; V Kamali; O Søvik
Journal:  Clin Chim Acta       Date:  1992-01-31       Impact factor: 3.786

  2 in total

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