GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry-Reference-Cited by-同舟云学术

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Published:2019-08-07 Issue:11 Volume:40 Page:2146-2164
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Reuser Arnold J. J.¹^ORCID,Ploeg Ans T.²,Chien Yin‐Hsiu³,Llerena Juan⁴,Abbott Mary‐Alice⁵,Clemens Paula R.⁶,Kimonis Virginia E.⁷,Leslie Nancy⁸,Maruti Sonia S.⁹,Sanson Bernd‐Jan⁹,Araujo Roberto⁹,Periquet Magali¹⁰,Toscano Antonio¹¹,Kishnani Priya S.¹²,on behalf of the Pompe Registry Sit

Affiliation:

1. Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands

2. Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands

3. Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan

4. Departamento de Genética Médica Instituto Fernandes Figueira (FIOCRUZ) Rio de Janeiro RJ Brazil

5. Department of Pediatrics Baystate Medical Center Springfield Massachusetts

6. Department of Neurology and Department of Veterans Affairs Medical Center University of Pittsburgh Pittsburgh Pennsylvania

7. Division of Genetics and Genomic Medicine, Department of Pediatrics, School of Medicine University of California Irvine California

8. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio

9. Sanofi Genzyme Cambridge Massachusetts

10. Sanofi Genzyme Amsterdam The Netherlands

11. Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders University of Messina Messina Italy

12. Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23878

Reference59 articles.

1. 1000 Genome Project Consortium. (2017). Retrieved June 30 2017 fromhttp://www.internationalgenome.org/

2. A method and server for predicting damaging missense mutations

3. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

4. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

5. The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

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