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Neurology. 2005 Jun 28;64(12):2139-41.

Disease severity in children and adults with Pompe disease related to age and disease duration.

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  • 1Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands.


Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.

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