...Dan Zhang; Jiong Zhang; Shaoshan Liang; Jinquan Wang; Zhihong Liu Background: Fabry disease (FD) with life-threatening complications occurs as a result of organ damage in kidneys, heart, and brain. Only a few studies, especially from Asia, report their long-term outcome. Methods...

...Fabio Pagni; Federico Pieruzzi; Stefano Zannella; Antonella Di Giacomo; Giorgio Bovo; Franco Ferrario; Giacomo Torti; Rodolfo Rivera; Emma Assi; Federica Viglione; Manuela Nebuloni The occurrence of renal cell carcinoma (RCC) in Fabry disease (FD) is a rare event. We report a deep ultrastructural...

.... A line grid for intercept counting and classifying endothelial coverage of fenestrated versus non-fenestrated areas was designed. The method was applied to renal biopsies from 15 patients with Fabry disease and 9 normal living kidney donor controls. Results: The percentage of glomerular capillary...

...Hideki Fujii; Keiji Kono; Shunsuke Goto; Tetsuari Onishi; Hiroya Kawai; Ken-ichi Hirata; Kiyoko Hattori; Kimitoshi Nakamura; Fumio Endo; Masafumi Fukagawa Background: Fabry disease (FD) is a rare disease and one of the causes of progressive renal dysfunction. It results from an X-linked deficiency...

... medication. There are also outstanding questions concerning the dosage of ERT and the time of treatment initiation, particularly in pediatric patients and in females with no, or only mild, features of Fabry disease [ 7 ]. To be able to study a larger number of patients clinically, the Fabry Outcome...

...Ann Van Loo; Raymond Vanholder; Kirsten Madsen; Marleen Praet; Jos Kint; Ann De Paepe; Ludwine Messiaen; Norbert Lameire; Lis Hasholt; Sven A. Sørensen; Severin Ringoir It is generally accepted that Fabry disease (angiokeratoma corporis diffusum) is an X-linked disorder resulting from the deficient...