Article
Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 16 Sept 1997
Hollán S, Magócsi M, Fodor E, Horányi M, Harsányi V, Farkas T
Abstract excerpt
In a Hungarian family with triosephosphate isomerase (TPI) deficiency, two compound heterozygote brothers were found with the same severe decrease in TPI activity, but only one of them had the classical symptoms. In search for the pathogenesis of the differing phenotype of the same genotypic TPI deficiency, an increase in red cell membrane fluidity was found. There were roughly 100% and 30% more 16:0/20:4 and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.