Is the alpha‐galactosidase A variant p.Asp313Tyr ( p.D313Y ) pathogenic for Fabry disease? A systematic review-Reference-Cited by-同舟云学术

Is the alpha‐galactosidase A variant p.Asp313Tyr ( p.D313Y ) pathogenic for Fabry disease? A systematic review

Published:2020-05-12 Issue:5 Volume:43 Page:922-933
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Effraimidis Grigoris¹^ORCID,Rasmussen Åse K.¹,Bundgaard Henning²,Sørensen Søren S.³,Feldt‐Rasmussen Ulla¹

Affiliation:

1. Department of Medical Endocrinology and Metabolism Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

2. Department of Cardiology, The Capital Region's Unit of Inherited Cardiac Diseases, Faculty of Health and Medical Sciences Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

3. Department of Nephrology Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12240

Reference61 articles.

1. Enzymatic Defect in Fabry's Disease

2. Fabry disease

3. Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

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

5. The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

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