Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Reference47 articles.
1. The Human Genome Mutation Database. http://www.hgmd.org
2. High incidence of later-onset Fabry disease revealed by newborn screening;Spada;Am J Hum Genet,2006
3. First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene;Paciotti;Clin Chim Acta,2012
4. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria;Mechtler;Lancet,2012
5. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population;Lin;Circ Cardiovasc Genet,2009
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