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 dim...

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發表在:PLoS One
Main Authors: Mauhin, Wladimir, Benveniste, Olivier, Amelin, Damien, Montagner, Clémence, Lamari, Foudil, Caillaud, Catherine, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Hélène, Lidove, Olivier
格式: Artigo
語言:Inglês
出版: Public Library of Science 2020
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7244174/
https://ncbi.nlm.nih.gov/pubmed/32442237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0233460
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