Search Results - "Broekgaarden, H"
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Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease
Published in Journal of inherited metabolic disease (01-05-2015)“…Pompe disease is a rare, progressive lysosomal storage disorder for which enzyme therapy (ERT) became available in 2006. Four years earlier, the IPA/Erasmus MC…”
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Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands
Published in Neuromuscular disorders : NMD (01-09-2024)“…•Most individual neuromuscular disorders are rare, but as a group they are not.•Epidemiological data regarding these disorders, especially incidence, is…”
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