Literature DB >> 9323571

Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency.

K M Gibson1, A S Feigenbaum.   

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Year:  1997        PMID： 9323571     DOI： 10.1023/a:1005390829803

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


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  1 in total

1.  Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.

Authors:  A B Burlina; K M Gibson; W Ruitenbeek; L Bonafè; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982
  1 in total

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