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

Author:

Mauhin WladimirORCID,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

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference33 articles.

1. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency;RO Brady;N Engl J Med,1967

2. Poorthuis BJHM. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease;BE Smid;J Med Genet,2015

3. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients;B Young-Gqamana;PloS One,2013

4. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy;R Schiffmann;Nephrol Dial Transplant Off Publ Eur Dial Transpl Assoc—Eur Ren Assoc,2009

5. Prevalence of lysosomal storage disorders;PJ Meikle;JAMA,1999

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