Associated Papers
Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.
Gragnaniello V et al.
Reports (mdpi), 2026
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
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