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Enzymatic and molecular strategies to diagnose Pompe disease.
Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D. Reuser A, et al. Among authors: van diggelen o, van der ploeg a. Expert Opin Med Diagn. 2010 Jan;4(1):79-89. doi: 10.1517/17530050903460300. Epub 2009 Dec 1. Expert Opin Med Diagn. 2010. PMID: 23496111
Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression.
Broeders M, van Rooij J, Oussoren E, van Gestel T, Smith C, Kimber S, Verdijk R, Wagenmakers M, van den Hout J, van der Ploeg A, Narcisi R, Pijnappel W. Broeders M, et al. Among authors: van gestel t, van der ploeg a, van rooij j, van den hout j. Front Bioeng Biotechnol. 2022 Dec 6;10:949063. doi: 10.3389/fbioe.2022.949063. eCollection 2022. Front Bioeng Biotechnol. 2022. PMID: 36561048 Free PMC article.
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.
316 results