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Retricted access

Case report

First published 2015-02

Late-Onset Pompe Disease With Left-Sided Bronchomalacia

Chia-Feng Yang, Dau-Ming Niu, Mei-Jy Jeng [...]

Respiratory Care

Retricted access

Research article

First published 2016-07

Blunted Hypercapnic Respiratory Drive Response in Subjects With Late-Onset Pompe Disease

Eduardo L De Vito, Sergio G Monteiro, Patricia K Aruj

Respiratory Care

Free access

Research article

First published 2022-03-01

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

Tanushree Chawla, Veeramani Preethish-Kumar, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

Open access

Brief report

First published 2026-1

Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing

Yutaka Furuta, Neena S. Agrawal, Angela R. Grochowsky [...]

The Neurohospitalist

Open access

Review article

First published 2022

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting

Ali Al Shehri, Abdullah Al-Asmi, Abdullah Mohammed Al Salti [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2026

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis,Treatment,and Quality of Life

Benjamin W. Gallarda, Ross A. Leslie, Felicia Oyedepo [...]

Journal of Patient Experience

Free access

Research article

First published 2022

Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease

Junichiro Takahashi, Madoka Mori-Yoshimura, Hajime Ariga [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2021

Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease

Paolo De Blasiis, Allegra Fullin, Mario Sansone [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2026

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease

Robert J. Hopkin, Barry J. Byrne, Mazen M. Dimachkie [...]

Therapeutic Advances in Rare Disease

Retricted access

Other

First published 2010-8

Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid α-Glucosidase Gene

Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Rehotbevely Barrientos-Ríos [...]

Journal of Child Neurology

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