Diagnostic strategy for females suspected of Fabry disease-Reference-Cited by-同舟云学术

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Diagnostic strategy for females suspected of Fabry disease

Published:2020-01-07 Issue:4 Volume:97 Page:655-660
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Balendran Sukirthini¹,Oliva Petra²^ORCID,Sansen Stefaan³,Mechtler Thomas P.²,Streubel Berthold¹,Cobos Paulina N.⁴,Lukacs Zoltan⁴,Kasper David C.²

Affiliation:

1. Department of PathologyThe Medical University of Vienna Vienna Austria

2. ARCHIMED Life Science GmbH Vienna Austria

3. Sanofi Genzyme Amsterdam Netherlands

4. Newborn Screening and Metabolic Diagnostics UnitHamburg University Medical Center Hamburg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13694

Reference20 articles.

1. Fabry disease: A fundamental genetic modifier of cardiac function

2. Fabry's Disease: Alpha-Galactosidase Deficiency

3. Fabry's disease: Case series and review of literature

4. Fabry disease

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1. Experts’ Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective;Therapeutics and Clinical Risk Management;2024-09

2. Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease;Molecular Genetics and Metabolism;2024-09

3. Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant;Cardiogenetics;2024-04-07

4. Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea;Kidney Research and Clinical Practice;2024-01-12

5. Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis;Molecular Genetics and Metabolism;2023-12

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