Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document-Reference-Cited by-同舟云学术

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Published:2015-03-27 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Biegstraaten Marieke,Arngrímsson Reynir,Barbey Frederic,Boks Lut,Cecchi Franco,Deegan Patrick B,Feldt-Rasmussen Ulla,Geberhiwot Tarekegn,Germain Dominique P,Hendriksz Chris,Hughes Derralynn A,Kantola Ilkka,Karabul Nesrin,Lavery Christine,Linthorst Gabor E,Mehta Atul,van de Mheen Erica,Oliveira João P,Parini Rossella,Ramaswami Uma,Rudnicki Michael,Serra Andreas,Sommer Claudia,Sunder-Plassmann Gere,Svarstad Einar,Sweeb Annelies,Terryn Wim,Tylki-Szymanska Anna,Tøndel Camilla,Vujkovac Bojan,Weidemann Frank,Wijburg Frits A,Woolfson Peter,Hollak Carla EM

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0253-6.pdf

Reference41 articles.

1. The online metabolic and molecular bases of inherited disease;RJ Desnick,2007

2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54.

3. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105(1–2):151–6.

4. Van der Tol L, Smid BE, Poorthuis BJHM, Biegstraaten M, Lekanne Deprez RH, Linthorst GE, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet. 2014;51(1):1–9.

5. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L, et al. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276(21):1163–7.

Cited by 265 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Clinical outcomes in elderly patients receiving agalsidase alfa treatment in the Fabry Outcome Survey;Molecular Genetics and Metabolism;2024-09

3. Early atrial remodelling drives arrhythmia in Fabry Disease;2024-08-17

4. Contemporary Multimodality Imaging for Diagnosis and Management of Fabry Cardiomyopathy;Journal of Clinical Medicine;2024-08-14

5. Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis;Frontiers in Genetics;2024-08-14