Associated Papers
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Fiumara A et al.
Molecular Genetics and Metabolism Reports, 2024
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Premature pubarche in children with Pompe disease.
Tan QK et al.
The Journal of Pediatrics, 2015
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
van Capelle CI et al.
Neuromuscular Disorders : Nmd, 2010
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME et al.
Molecular Genetics and Metabolism, 2007
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Kroos MA et al.
Neuromuscular Disorders : Nmd, 2004
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Huie ML et al.
Biochemical and Biophysical Research Communications, 1998
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
Prakalapakorn SG et al.
Journal of Pediatric Ophthalmology and Strabismus, 0
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