Last Updated: 09/26/2026
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Found 28 publications
Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.
Journal: Frontiers in immunology
Published: August 21, 2025
Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 11, 2025
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.
Journal: Genetics in medicine open
Published: March 10, 2025
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
Journal: The Journal of pediatrics
Published: July 05, 2024
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
Journal: Orphanet journal of rare diseases
Published: April 20, 2023
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Journal: Journal of neuromuscular diseases
Published: October 10, 2022
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 22, 2022
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Journal: Cardiology in the young
Published: August 23, 2021
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.
Journal: Neuroscience and biobehavioral reviews
Published: June 30, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Journal: Molecular genetics and metabolism
Published: April 21, 2020
Navigating Newborn Screening in the NICU: A User's Guide.
Journal: NeoReviews
Published: July 02, 2019
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 02, 2019
Last Updated: 09/26/2026