| Literature DB >> 15877211 |
L Mrázová1, T Fukao, K Hálovd, E Gregová, V Kohút, D Pribyl, P Chrastina, N Kondo, E Pospisilová.
Abstract
We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.Entities:
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Year: 2005 PMID： 15877211 DOI： 10.1007/s10545-005-7497-6
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982