Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.
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ABSTRACT:
SUBMITTER: Serebrinsky G
PROVIDER: S-EPMC4750630 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Publications
Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.
Serebrinsky G G Calvo M M Fernandez S S Saito S S Ohno K K Wallace E E Warnock D D Sakuraba H H Politei J J
Molecular genetics and metabolism reports 20150607
<h4>Background</h4>Screening for Fabry disease (FD) in high risk populations yields a significant number of individuals with novel, ultra rare genetic variants in the GLA gene, largely without classic manifestations of FD. These variants often have significant residual α-galactosidase A activity. The establishment of the pathogenic character of previously unknown or rare variants is challenging but necessary to guide therapeutic decisions.<h4>Objectives</h4>To present 2 cases of non-classical pr ...[more]
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