The emerging phenotype of late-onset Pompe disease: A systematic literature review-Reference-Cited by-同舟云学术

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The emerging phenotype of late-onset Pompe disease: A systematic literature review

Published:2017-03 Issue:3 Volume:120 Page:163-172
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Chan Justin,Desai Ankit K.,Kazi Zoheb B.,Corey Kaitlyn,Austin Stephanie,Hobson-Webb Lisa D.,Case Laura E.,Jones Harrison N.,Kishnani Priya S.

Funder

National Skeletal Muscle Research Center

Genzyme Corporation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference129 articles.

1. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients;Feeney;Acta Neuropathol. Commun.,2014

2. Clinical features of late-onset Pompe disease: a prospective cohort study;Wokke;Muscle Nerve,2008

3. Course of disability and respiratory function in untreated late-onset Pompe disease;Hagemans;Neurology,2006

4. Pompe disease diagnosis and management guideline;Kishnani;Genet. Med.,2006

5. Pompe disease: a neuromuscular disease with respiratory muscle involvement;Mellies;Respir. Med.,2009

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1. A Study to Identify Individuals At Risk To Be Affected By Pompe Disease Who Had PrevioUsly Been Given a Non-Specific OR Tentative DiagnosiS For Their MUsclEWeakness (Pompe PURSUE);2024-06-13

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4. Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial;Molecular Genetics and Metabolism;2024-02

5. Metabolic diseases;Translational Glycobiology in Human Health and Disease;2024

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