Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

BACKGROUD:Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a dimi...

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Main Authors: Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0233460

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https://doi.org/10.1371/journal.pone.0233460

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