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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2015
Teme:
Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki