Ontology highlight
ABSTRACT:
SUBMITTER: Germain DP
PROVIDER: S-EPMC6081232 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Germain Dominique P DP Brand Eva E Burlina Alessandro A Cecchi Franco F Garman Scott C SC Kempf Judy J Laney Dawn A DA Linhart Aleš A Maródi László L Nicholls Kathy K Ortiz Alberto A Pieruzzi Federico F Shankar Suma P SP Waldek Stephen S Wanner Christoph C Jovanovic Ana A
Molecular genetics & genomic medicine 20180412
<h4>Background</h4>The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.<h4>Methods</h4>To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ve ...[more]