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Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA, Mackenbach MJ, Dremmen MHG, van der Vlugt WMC, Rizopoulos D, van Doorn PA, van der Ploeg AT, Muetzel R, van der Beek NAME, van den Hout JMP. van den Dorpel JJA, et al. J Inherit Metab Dis. 2024 Jul;47(4):716-730. doi: 10.1002/jimd.12736. Epub 2024 Apr 8. J Inherit Metab Dis. 2024. PMID: 38584574
Diffusion tensor imaging of the brain in Pompe disease.
van den Dorpel JJA, Dremmen MHG, van der Beek NAME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Muetzel RL, van den Hout JMP. van den Dorpel JJA, et al. J Neurol. 2023 Mar;270(3):1662-1671. doi: 10.1007/s00415-022-11506-z. Epub 2022 Dec 8. J Neurol. 2023. PMID: 36480052 Free PMC article.