In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

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 (GLA). An increasing number of individuals with a GLA variant, but without characteristic FD features, are identified. A...

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Udgivet i:JIMD Rep
Main Authors: van der Tol, Linda, Verhamme, Camiel, van Schaik, Ivo N., van der Kooi, Anneke J., Hollak, Carla E. M., Biegstraaten, Marieke
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059210/
https://ncbi.nlm.nih.gov/pubmed/26563328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_503
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