Rare Diseases Report 2022

The paradox of Pompe disease


 

References

1. Musumeci O, Toscano A. Diagnostic tools in late onset Pompe disease (LOPD). Ann Transl Med. 2019 Jul;7(13):286. doi: 10.21037/atm.2019.06.60.

2. Filosto M et al. Assessing the role of anti rh-GAA in modulating response to ERT in a late-onset Pompe disease cohort from the Italian GSDII Study Group. Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5.

3. Patel TT et al. The impact of antibodies in late-onset Pompe disease: A case series and literature review. Mol Genet Metab. 2012 Jul;106(3):301-9. doi: 10.1016/j.ymgme.2012.04.027.

4. Montagnese F et al. Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD). J Inherit Metab Dis. 2016 May;39(3):391-398. doi: 10.1007/s10545-015-9913-x.

5. Musumeci O et al. Central nervous system involvement in late-onset Pompe disease: Clues from neuroimaging and neuropsychological analysis. Eur J Neurol. 2019 Mar;26(3):442-e35. doi: 10.1111/ene.13835.

6. Edelmann MJ, Maegawa GHB. CNS-targeting therapies for lysosomal storage diseases: Current advances and challenges. Front Mol Biosci. 2020 Nov 12;7:559804. doi: 10.3389/fmolb.2020.559804

7. Ronzitti G et al. Progress and challenges of gene therapy for Pompe disease. Ann Transl Med. 2019 Jul;7(13):287. doi: 10.21037/atm.2019.04.67.

8. Kishnani PS, Koeberl DD. Liver depot gene therapy for Pompe disease. Ann Transl Med. 2019 Jul;7(13):288. doi: 10.21037/atm.2019.05.02.

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