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- W4319456265 abstract "Late-onset Pompe disease is caused by a glycogen deposition involving mainly striated muscle. It may also target many other tissues such as liver, smooth muscles or spine anterior horn. Glycogen accumulation in Schwann cells and in the perineurium of peripheral nerves was shown in Pompe's disease mouse models. Moreover two late-onset Pompe disease patients were reported as having a small fiber neuropathy. To the best of our knowledge an involvement of large nerve fibers was never depicted. We describe four late-onset Pompe disease patients having a concomitant polyneuropathy of undetermined etiology. Our observations reinforce the proof-of-concept supporting a potential involvement of peripheral nerves as additional organ targeted by late-onset Pompe disease. It has clinical care consequences since peripheral neuropathy in late-onset Pompe disease could worsen patient's disability and needs particular care such as proprioceptive physiotherapy." @default.
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- W4319456265 date "2023-02-01" @default.
- W4319456265 modified "2023-10-18" @default.
- W4319456265 title "Females with late onset Pompe disease: Clinical manifestations and rate of disease progression with no treatment" @default.
- W4319456265 doi "https://doi.org/10.1016/j.ymgme.2022.107246" @default.
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