Associated Papers
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
Zemánek D et al.
Esc Heart Failure, 2022
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 2022
Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
Rybová J et al.
Glycobiology, 2018
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
Vylet'al P et al.
Journal of Inherited Metabolic Disease, 2008
Natural history of the respiratory involvement in Anderson-Fabry disease.
Magage S et al.
Journal of Inherited Metabolic Disease, 2007
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D et al.
Human Mutation, 2001
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