Sage Journals: Discover world-class research

Retricted access

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

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Review article

First published 2025

Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review

Misha Khan, Mufliha Ibrahim, Farhana Riaz [...]

Clinical Medicine Insights: Pediatrics

Open access

Research article

First published 2024-01-02

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

Charlotte Pfrimmer, Martin Smitka, Nicole Muschol [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2014-8

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness

Harrison N. Jones, Kelly D. Crisp, Tronda Moss [...]

Journal of Pediatric Rehabilitation Medicine

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Research article

First published 2010-12

p.D645E of Acid α-Glucosidase Is the Most Common Mutation in Thai Patients with Infantile-Onset Pompe Disease

Pramuk Amarinthnukrowh, Siraprapa Tongkobpetch, Apichai Kongpatanayothin [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2017-06

Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations

Xi Chen, Tingliang Liu, Meirong Huang [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2020-4-13

Training,detraining,and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease

Kelly D. Crisp, Laura E. Case, Richard M. Kravitz [...]

Journal of Pediatric Rehabilitation Medicine

Open access

Research article

First published 2015-3

Infantile-Onset Pompe Disease: The Care Beyond the Cure

Guja Astrea, Silvia Perazza, Silvia Frosini [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2015-3

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy

Yin-Hsiu Chien, Ans van der Ploeg, Simon Jones [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2018-1

Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease

Lisa A. Prosser, K. K. Lam, Scott D. Grosse [...]

MDM Policy & Practice

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