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2001 1
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Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.
van den Dorpel JJA, Poelman E, Harlaar L, van Kooten HA, van der Giessen LJ, van Doorn PA, van der Ploeg AT, van den Hout JMP, van der Beek NAME. van den Dorpel JJA, et al. Among authors: van der giessen lj. Orphanet J Rare Dis. 2020 Sep 14;15(1):247. doi: 10.1186/s13023-020-01482-w. Orphanet J Rare Dis. 2020. PMID: 32928284 Free PMC article.
Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease.
Scheffers LE, Somers OC, Dulfer K, Dieleman GC, Walet S, van der Giessen LJ, van der Ploeg AT, van den Hout JMP, van den Berg LE; exercise team. Scheffers LE, et al. Among authors: van der giessen lj. J Inherit Metab Dis. 2023 Jul;46(4):605-617. doi: 10.1002/jimd.12607. Epub 2023 Apr 17. J Inherit Metab Dis. 2023. PMID: 37002894 Clinical Trial.
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients.
Poelman E, van den Dorpel JJA, Hoogeveen-Westerveld M, van den Hout JMP, van der Giessen LJ, van der Beek NAME, Pijnappel WWMP, van der Ploeg AT. Poelman E, et al. Among authors: van der giessen lj. J Inherit Metab Dis. 2020 Nov;43(6):1243-1253. doi: 10.1002/jimd.12268. Epub 2020 Jul 13. J Inherit Metab Dis. 2020. PMID: 32506446 Free PMC article.