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Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT. van Gelder CM, et al. J Inherit Metab Dis. 2012 May;35(3):505-11. doi: 10.1007/s10545-011-9404-7. Epub 2011 Oct 19. J Inherit Metab Dis. 2012. PMID: 22008944 Free PMC article.
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, van der Ploeg AT. Brands MM, et al. J Inherit Metab Dis. 2015 Mar;38(2):323-31. doi: 10.1007/s10545-014-9737-0. Epub 2014 Jul 22. J Inherit Metab Dis. 2015. PMID: 25048386
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
Ebbink BJ, Brands MM, van den Hout JM, Lequin MH, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT. Ebbink BJ, et al. J Inherit Metab Dis. 2016 Mar;39(2):285-92. doi: 10.1007/s10545-015-9895-8. Epub 2015 Oct 8. J Inherit Metab Dis. 2016. PMID: 26450354 Free PMC article.
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Oussoren E, Mathijssen IMJ, Wagenmakers M, Verdijk RM, Bredero-Boelhouwer HH, van Veelen-Vincent MC, van der Meijden JC, van den Hout JMP, Ruijter GJG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: van der ploeg at, van den hout jmp, van der meijden jc, van veelen vincent mc. J Inherit Metab Dis. 2018 Nov;41(6):1247-1258. doi: 10.1007/s10545-018-0212-1. Epub 2018 Aug 6. J Inherit Metab Dis. 2018. PMID: 30083803 Free PMC article.
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 ploeg at, van der giessen lj, van den hout jmp, van den dorpel jja, van der beek name. 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.
Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Vollebregt AAM, Ebbink BJ, Rizopoulos D, Lequin MH, Aarsen FK, Shapiro EG, van der Ploeg AT, van den Hout JMP. Vollebregt AAM, et al. Among authors: van der ploeg at, van den hout jmp. J Inherit Metab Dis. 2021 May;44(3):751-762. doi: 10.1002/jimd.12342. Epub 2021 Jan 25. J Inherit Metab Dis. 2021. PMID: 33330992 Free PMC article.
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.
Schaefers J, van der Giessen LJ, Klees C, Jacobs EH, Sieverdink S, Dremmen MHG, Spoor JKH, van der Ploeg AT, van den Hout JMP, Huidekoper HH. Schaefers J, et al. Among authors: van der ploeg at, van der giessen lj, van den hout jmp. Orphanet J Rare Dis. 2021 May 14;16(1):221. doi: 10.1186/s13023-021-01858-6. Orphanet J Rare Dis. 2021. PMID: 33990214 Free PMC article.
Is the brain involved in patients with late-onset Pompe disease?
van den Dorpel JJA, van der Vlugt WMC, Dremmen MHG, Muetzel R, van den Berg E, Hest R, de Kriek J, Brusse E, 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 ploeg at, van den hout jmp, van den berg e, van der vlugt wmc, van doorn pa, van der beek name. J Inherit Metab Dis. 2022 May;45(3):493-501. doi: 10.1002/jimd.12469. Epub 2022 Jan 25. J Inherit Metab Dis. 2022. PMID: 34927739 Free PMC article.
36 results