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316 results

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Page 1
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.
Díaz-Manera J, Hughes D, Erdem-Özdamar S, Tard C, Béhin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT. Díaz-Manera J, et al. Among authors: van der ploeg at. Mol Genet Metab. 2024 Dec;143(4):108608. doi: 10.1016/j.ymgme.2024.108608. Epub 2024 Nov 8. Mol Genet Metab. 2024. PMID: 39566417 Free article.
Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.
Byrne BJ, Parenti G, Schoser B, van der Ploeg AT, Do H, Fox B, Goldman M, Johnson FK, Kang J, Mehta N, Mondick J, Sheikh MO, Sitaraman Das S, Tuske S, Brudvig J, Weimer JM, Mozaffar T. Byrne BJ, et al. Among authors: van der ploeg at. Front Neurol. 2024 Oct 18;15:1451512. doi: 10.3389/fneur.2024.1451512. eCollection 2024. Front Neurol. 2024. PMID: 39494167 Free PMC article.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Among authors: van der ploeg at. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.
van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME; European Pompe Consortium study group on outcome measures. van Kooten HA, et al. Among authors: van der ploeg at. Eur J Neurol. 2024 Dec;31(12):e16397. doi: 10.1111/ene.16397. Epub 2024 Aug 28. Eur J Neurol. 2024. PMID: 39205420 Free PMC article.
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC Jr, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT. Berger KI, et al. Among authors: van der ploeg at. J Neurol. 2024 Aug;271(8):5433-5446. doi: 10.1007/s00415-024-12489-9. Epub 2024 Jun 19. J Neurol. 2024. PMID: 38896264 Free PMC article.
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.
Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT. Schoser B, et al. Among authors: van der ploeg at. Eur J Neurol. 2024 Sep;31(9):e16383. doi: 10.1111/ene.16383. Epub 2024 Jun 14. Eur J Neurol. 2024. PMID: 38873957 Free PMC article.
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. Among authors: van der ploeg at. 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
Tailored anticoagulant treatment after a first venous thromboembolism: protocol of the Leiden Thrombosis Recurrence Risk Prevention (L-TRRiP) study - cohort-based randomised controlled trial.
Burggraaf-van Delft JLI, van Rein N, Bemelmans RHH, van den Berg JK, Bruggeman CY, Cloos-van Balen M, Coppens M, Eefting M, Ende-Verhaar Y, van Es N, van Guldener C, de Jong WK, Kleijwegt F, Koster T, Kroon C, Kuipers S, Leentjens J, Luijten D, Mairuhu ATA, Meijer K, van de Ree MA, Roos R, Schrover I, Swart-Heikens J, van der Velden AWG, van den Akker-van Marle EM, le Cessie S, Geersing GJ, Middeldorp S, Huisman MV, Klok FA, Cannegieter SC; L-TRRiP investigators. Burggraaf-van Delft JLI, et al. BMJ Open. 2024 Mar 23;14(3):e078676. doi: 10.1136/bmjopen-2023-078676. BMJ Open. 2024. PMID: 38521524 Free PMC article.
316 results