Table 1Proportion of hemizygous male and heterozygous female patients with Fabry disease (with or without the N215S mutation) with elevated levels of globotriaosylceramide (Gb3 ) in plasma and urine

Proportion of patients with raised Gb3 levels
HemizygotesN215S hemizygotesHeterozygotesN215S heterozygotes
Plasma44/48 (92%)0/6 (0%)27/64 (42%)1/4 (25%)
Urine41/41 (100%)3/7 (43%)78/82 (95%)0/5 (0%)

From: Chapter 18, Biochemical and genetic diagnosis of Fabry disease

Cover of Fabry Disease
Fabry Disease: Perspectives from 5 Years of FOS.
Mehta A, Beck M, Sunder-Plassmann G, editors.
Oxford: Oxford PharmaGenesis; 2006.
Copyright © 2006, Oxford PharmaGenesis™.

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