Associated Papers
Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe disease.
Lu Y et al.
Molecular Genetics and Metabolism, 2025
High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.
Jiao K et al.
Journal of Inherited Metabolic Disease, 2025
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C et al.
Journal of Neuromuscular Diseases, 2024
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM et al.
The Lancet. Child & Adolescent Health, 2022
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.
Xu L et al.
Italian Journal of Pediatrics, 2019
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