Family with the rare GLA-Thr410Ala mutation

Volume: 129, Issue: 2, Pages: S155 - S155
Published: Feb 1, 2020
Abstract
Fabry disease is an X-linked lysosomal storage disorder with a highly heterogeneous clinical presentation. This complex disease is caused by a deficient activity of the enzyme α-galactosidase A, which is involved in the catabolism of glycosphingolipids. The prevalence of Fabry disease is underestimated, due to the presence of atypical variants. High-risk screening protocols are particularly relevant for this disease due to the availability of...
Paper Details
Title
Family with the rare GLA-Thr410Ala mutation
Published Date
Feb 1, 2020
Volume
129
Issue
2
Pages
S155 - S155
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.