Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report-Reference-Cited by-同舟云学术

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report

Published:2023-02 Issue:2 Volume:25 Page:100328
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Kishnani Priya S.^ORCID,Kronn David,Brassier Anaïs,Broomfield Alexander,Davison James,Hahn Si Houn,Kumada Satoko,Labarthe François,Ohki Hirotaka,Pichard Samia,Prakalapakorn S. Grace,Haack Kristina An,Kittner Barbara,Meng Xianzhang,Sparks Susan,Wilson Catherine,Zaher Atef,Chien Yin-Hsiu

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference28 articles.

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2. Pompe disease: glycogen storage disease type II, acid α-glucosidase (acid maltase) deficiency;Reuser,2018

3. Antenatal diagnosis of Pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy;Hamdan;J Inherit Metab Dis,2010

4. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J Pediatr,2006

5. Clinical and molecular disease spectrum and outcomes in patients with infantile-onset Pompe disease;Gupta;J Pediatr,2020

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1. An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records;Scientific Reports;2024-09-14

2. Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy;Molecular Genetics and Metabolism Reports;2024-09

3. Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease;Molecular Genetics and Metabolism;2024-09

4. Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry;Journal of Neurology;2024-06-19

5. The Importance of Early Treatment of Inherited Neuromuscular Conditions;Journal of Neuromuscular Diseases;2024-03-05