Azevedo, Olga <br/><br/>
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.  [electronic resource] 

 -  Molecular genetics and metabolism  02 2020 
 - 150-160 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2019.07.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Aged, 80 and over<br/>Cardiomyopathy, Hypertrophic--complications<br/>Cohort Studies<br/>Fabry Disease--genetics<br/>Female<br/>Founder Effect<br/>Humans<br/>Late Onset Disorders<br/>Male<br/>Middle Aged<br/>Mutation<br/>Phenotype<br/>Portugal<br/>Young Adult<br/>alpha-Galactosidase--genetics