First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference6 articles.
1. Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics;Favalli;J Am Coll Cardiol.,2016
2. The p.Arg118Cys Variant in GLA Gene Does not Cause Fabry Disease. More Evidence;Barbeito-Caamaño;Rev Esp Cardiol,2018
3. X-chromosome inactivation in female patients with Fabry disease;Echevarria;Clin Genet.,2016
4. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels;Vedder;J Inherit Metab Dis.,2007
5. Recurrence of Fabry Disease as a Result of Paternal Germline Mosaicism for a-Galactosidase A Gene Mutation;Dobrovolny;Am J Med Genet.,2005
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1. Advanced drug delivery systems involving lysosomal storage disorders for Fabry disease;Drug Delivery Systems for Metabolic Disorders;2022
2. Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing;Frontiers in Molecular Biosciences;2021-11-05
3. A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report;Annals of Palliative Medicine;2021-04
4. Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy;Cardiogenetics;2020-12-31
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