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Open access

Research article

First published 2022

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

Tina Duong, Priya S. Kishnani, Kristina An Haack [...]

Journal of Neuromuscular Diseases

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

Case report

First published 2017-9

Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature

Kazibe Koyuncu, Batuhan Turgay, Rusen Aytac [...]

Obstetric Medicine

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

Free access

Research article

First published 2007-10

Optimized Preservation of CNS Morphology for the Identification of Glycogen in the Pompe Mouse Model

Tatyana V. Taksir, Denise Griffiths, Jennifer Johnson [...]

Journal of Histochemistry & Cytochemistry

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Research article

First published 2016-12

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy

Chih-Jou Lai, Ting-Rong Hsu, Chia-Feng Yang [...]

Journal of Child Neurology

Open access

Review article

First published 2020

Advancements in AAV-mediated Gene Therapy for Pompe Disease

S.M. Salabarria, J. Nair, N. Clement [...]

Journal of Neuromuscular Diseases

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

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

Retricted access

Research article

First published 2012-3

Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy

Anna Cho, Su Jin Kim, Byung Chan Lim [...]

Journal of Child Neurology

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