...Fernando Perretta; Gustavo Cabrera; Juan Politei Background: Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene, leading to a deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A) and the accumulation of complex glycosphingolipids...

...Huan Zhou; Siqing Wang; Yilin Chen; Dandan Yang; Yi Tang; Jiaxing Tan; Wei Qin Introduction: The diagnosis of Fabry disease (FD) with genetic variants of unknown significance (VUSs) is relatively difficult. We explored patients with novel VUS variants and concomitant immunoglobulin A nephropathy...

...Federica Baciga; Giacomo Marchi; Federica Caccia; Claudia Momentè; Pasquale Esposito; Filippo Aucella; Nicola Vitturi; Laura Pederzoli; Meilad Shakkour; Antonio Granata; Maria Teresa Zicarelli; Domenico Girelli; Michele Andreucci; Gianni Carraro; Yuri Battaglia Background: Fabry disease (FD...

... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Fabry disease Enzyme replacement...

...Cheng-Jui Lin; Yin-Hsiu Chien; Thung-S. Lai; Hong-Mou Shih; Yi-Chou Chen; Chi-Feng Pan; Han-Hsiang Chen; Wuh-Liang Hwu; Chih-Jen Wu Background/Aims: Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific...

...Carmela Zizzo; Alessandra Testa; Paolo Colomba; Maurizio Postorino; Giuseppe Natale; Alessandro Pini; Daniele Francofonte; Giuseppe Cammarata; Simone Scalia; Serafina Sciarrino; Carmine Zoccali; Giovanni Duro Background/Aims: Fabry disease (FD) is a lysosomal storage disorder characterized...

...; Pedro Vidau; Josep-Vicent Torregrosa Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids...

...Luciana Senra de Souza Sodré; Rosália Maria Nunes Henriques Huaira; Marcus Gomes Bastos; Fernando Antônio Basile Colugnati; Marcelo Paula Coutinho; Natália Maria da Silva Fernandes Background/Aims: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe...

...Albina Nowak; Gilbert Koch; Uyen Huynh-Do; Martin Siegenthaler; Hans-Peter Marti; Marc Pfister Background/Aims: Fabry disease (FD) is a rare inherited lysosomal storage disease with common and serious kidney complications. Enzyme replacement therapies (ERT) with agalsidase-α and -β were...

... Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports...

...Chunli Wang; Yang Wang; Feng Zhu; Jing Xiong Background: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic...