Article
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
PloS one - 1 Jan 2020
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
Abstract excerpt
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 diminished life expectancy. A nonclassical phenotype has been described with an almost exclusive cardiac involvement....
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