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Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.
Harlaar L, Ciet P, van Tulder G, Pittaro A, van Kooten HA, van der Beek NAME, Brusse E, Wielopolski PA, de Bruijne M, van der Ploeg AT, Tiddens HAWM, van Doorn PA. Harlaar L, et al. Orphanet J Rare Dis. 2021 Jan 7;16(1):21. doi: 10.1186/s13023-020-01627-x. Orphanet J Rare Dis. 2021. PMID: 33413525 Free PMC article.
Diaphragmatic dysfunction in neuromuscular disease, an MRI study.
Harlaar L, Ciet P, van Tulder G, Brusse E, Timmermans RGM, Janssen WGM, de Bruijne M, van der Ploeg AT, Tiddens HAWM, van Doorn PA, van der Beek NAME. Harlaar L, et al. Neuromuscul Disord. 2022 Jan;32(1):15-24. doi: 10.1016/j.nmd.2021.11.001. Epub 2021 Nov 9. Neuromuscul Disord. 2022. PMID: 34973872 Free article.
Imaging of respiratory muscles in neuromuscular disease: A review.
Harlaar L, Ciet P, van der Ploeg AT, Brusse E, van der Beek NAME, Wielopolski PA, de Bruijne M, Tiddens HAWM, van Doorn PA. Harlaar L, et al. Neuromuscul Disord. 2018 Mar;28(3):246-256. doi: 10.1016/j.nmd.2017.11.010. Epub 2017 Nov 24. Neuromuscul Disord. 2018. PMID: 29398294 Review.
MRI changes in diaphragmatic motion and curvature in Pompe disease over time.
Harlaar L, Ciet P, van Tulder G, van Kooten HA, van der Beek NAME, Brusse E, de Bruijne M, Tiddens HAWM, van der Ploeg AT, van Doorn PA. Harlaar L, et al. Eur Radiol. 2022 Dec;32(12):8681-8691. doi: 10.1007/s00330-022-08940-y. Epub 2022 Jul 13. Eur Radiol. 2022. PMID: 35829785 Free PMC article.
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
Canibano-Fraile R, Harlaar L, Dos Santos CA, Hoogeveen-Westerveld M, Demmers JAA, Snijders T, Lijnzaad P, Verdijk RM, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E, Pijnappel WWMP, Schaaf GJ. Canibano-Fraile R, et al. Among authors: harlaar l. J Inherit Metab Dis. 2023 Jan;46(1):101-115. doi: 10.1002/jimd.12560. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36111639 Free PMC article.
15 results