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Neurology. 2006 Feb 28;66(4):581-3.

Course of disability and respiratory function in untreated late-onset Pompe disease.

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Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.


Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional activities, respiratory function, handicap, and survival were recorded on a group level. This study illustrates the progressiveness of late-onset Pompe disease and indicates the need for close clinical follow-up of both children and adults with this disorder.

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