Background Screening for Fabry disease (FD) increasingly reveals individuals without
characteristic features and with a variant of unknown significance in the α-galactosidase A (GLA) …

Background Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A
(GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD…

… Author links open overlay panel Linda van der Tol a , Einar Svarstad b c , Alberto Ortiz d ,
Camilla Tøndel e , João Paulo Oliveira f , Liffert Vogt g , Stephen Waldek h , Derralynn A. …

… excretion as measures of kidney disease (Van der Tol 2014a). In individuals who present …
Linda van der Tol has received travel support and reimbursement of expenses from Actelion…

Introduction Mucopolysaccharidosis type I (MPS I) results in a defective breakdown of the
glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, which leads to a …

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an α-galactosidase
A enzyme deficiency due to pathogenic variants in the α-galactosidase A gene …

… The authors thank Dr Linda van Mierlo from CZ for her efforts in bringing the three research
groups together. In addition, the authors would like to thank Astellas BV for providing the DAs …

Increased awareness of Fabry disease has led to the identification of individuals with
transient ischemic attacks, stroke, or white matter lesions more than expected for age, with a …

… Lastly, I am deeply grateful for the affirmation and support from my parents Henk & Jeanine
van der Tol, my grandparents Bert & Marianne ter Horst, and my dear brother Hendrik who …

Methods A Delphi method was used to reach a consensus between FD experts. We performed
a systematic review selecting criteria on electrocardiogram, MRI and echocardiography to …