Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age
Author:
Publisher
Frontiers Media SA
Subject
Clinical Neurology,Neurology
Reference18 articles.
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2. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance;Van der Tol;J Med Genet,2014
3. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance;Smid;Clin Genet,2015
4. Cerebrovascular involvement in Fabry disease: current status of knowledge;Kolodny;Stroke,2015
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1. Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease;Journal of Inherited Metabolic Disease;2024-04-15
2. The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology;Orphanet Journal of Rare Diseases;2022-05-16
3. Fabry Disease: A Atypical Presentation;Cureus;2021-10-12
4. Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic;Journal of Clinical Medicine;2021-08-12
5. Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T;Diagnostics;2020-11-30
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