Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-galactosidase A. Because the prevalence of this genetic disorder is unknown in the Emilia Romagna region, we conducted a screening study to assess the prevalence of Fabry disease in the city of Modena, Italy.
[Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena] / Alfano, Gaetano; Ganda, Nicola; Cerami, Caterina; Mori, Giacomo; Fontana, Francesco; Cappelli, Gianni. - In: GIORNALE ITALIANO DI NEFROLOGIA. - ISSN 1724-5990. - 35:2(2018), pp. 1-13.
[Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena]
Alfano, Gaetano
Writing – Original Draft Preparation
;Cerami, CaterinaMembro del Collaboration Group
;Mori, GiacomoMembro del Collaboration Group
;Fontana, FrancescoMembro del Collaboration Group
;Cappelli, GianniSupervision
2018-01-01
Abstract
Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-galactosidase A. Because the prevalence of this genetic disorder is unknown in the Emilia Romagna region, we conducted a screening study to assess the prevalence of Fabry disease in the city of Modena, Italy.
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Alfano__Screening Fabry GIN 2018.pdf
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