Associated Papers
Adult Pompe disease: Analysis of 13 patients.
Martín-Jiménez P et al.
Medicina Clinica, 2025
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
38664407 (PubMed )
Supplement: 41531_2024_703_MOESM1_ESM.pdf
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang H et al.
International Journal of Neonatal Screening, 2020
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
Echaniz-Laguna A et al.
Muscle & Nerve, 2015
Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts.
Quenardelle V et al.
Journal of Neurology, 2015
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