Time delays in the diagnosis and treatment of Fabry disease-Reference-Cited by-同舟云学术

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Time delays in the diagnosis and treatment of Fabry disease

Published:2017-01 Issue:1 Volume:71 Page:e12914
ISSN:1368-5031
Container-title:International Journal of Clinical Practice
language:en
Short-container-title:Int J Clin Pract

Author:

Reisin Ricardo¹,Perrin Amandine²,García-Pavía Pablo³⁴

Affiliation:

1. Hospital Británico de Buenos Aires; Buenos Aires Argentina

2. Shire; Zug Switzerland

3. Heart Failure and Inherited Cardiac Diseases Unit; Department of Cardiology; Hospital Universitario Puerta de Hierro Majadahonda; Madrid Spain

4. Francisco de Vitoria University; Madrid Spain

Funder

Shire Human Genetic Therapies, Inc

Shire International GmbH

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijcp.12914/fullpdf

Reference21 articles.

1. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey;Ramaswami;Acta Paediatr,2006

2. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males;MacDermot;J Med Genet,2001

3. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females;MacDermot;J Med Genet,2001

4. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes;Whybra;J Inherit Metab Dis,2001

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

2. Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease;Cureus;2024-05-30

3. Cerebrovascular disorders and Fabry disease;Rare Disease and Orphan Drugs Journal;2024-03-25

4. Anderson–Fabry disease management: role of the cardiologist;European Heart Journal;2024-03-15

5. Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure;Journal of Rare Diseases;2024-03-01

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