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Page 1
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ. Labrijn-Marks I, et al. Among authors: van den hout hjm, van der ploeg at. Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737479 Free PMC article.
Enzyme therapy for Pompe disease: from science to industrial enterprise.
Reuser AJ, Van Den Hout H, Bijvoet AG, Kroos MA, Verbeet MP, Van Der Ploeg AT. Reuser AJ, et al. Among authors: van den hout h, van der ploeg at. Eur J Pediatr. 2002 Oct;161 Suppl 1:S106-11. doi: 10.1007/s00431-002-1015-8. Epub 2002 Aug 13. Eur J Pediatr. 2002. PMID: 12373583 Review.
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ. Hermans MM, et al. Among authors: van der ploeg at, van leenen d. Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286. Hum Mutat. 2004. PMID: 14695532
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT. Van den Hout JM, et al. Among authors: van hirtum h, van hove j, van der ploeg at, van der voort e, van diggelen op, van corven ej, van doorn pa. Pediatrics. 2004 May;113(5):e448-57. doi: 10.1542/peds.113.5.e448. Pediatrics. 2004. PMID: 15121988
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ. Kroos MA, et al. Among authors: van der ploeg at, van vliet l. Eur J Hum Genet. 2008 Aug;16(8):875-9. doi: 10.1038/ejhg.2008.34. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301443
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Aldenhoven M, de Koning TJ, Verheijen FW, Prinsen BH, Wijburg FA, van der Ploeg AT, de Sain-van der Velden MG, Boelens J. Aldenhoven M, et al. Among authors: van der ploeg at. Biol Blood Marrow Transplant. 2010 May;16(5):701-4. doi: 10.1016/j.bbmt.2010.01.006. Epub 2010 Jan 21. Biol Blood Marrow Transplant. 2010. PMID: 20096360 Free article.
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.
van Til NP, Stok M, Aerts Kaya FS, de Waard MC, Farahbakhshian E, Visser TP, Kroos MA, Jacobs EH, Willart MA, van der Wegen P, Scholte BJ, Lambrecht BN, Duncker DJ, van der Ploeg AT, Reuser AJ, Verstegen MM, Wagemaker G. van Til NP, et al. Among authors: van der wegen p, van der ploeg at. Blood. 2010 Jul 1;115(26):5329-37. doi: 10.1182/blood-2009-11-252874. Epub 2010 Apr 12. Blood. 2010. PMID: 20385789 Free article.
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.
de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, Sung CC, Brugma JD, Zandbergen AA, van der Ploeg AT, Reuser AJ. de Vries JM, et al. Among authors: van der ploeg at, van der beek na, van doorn pa. Mol Genet Metab. 2010 Dec;101(4):338-45. doi: 10.1016/j.ymgme.2010.08.009. Epub 2010 Aug 14. Mol Genet Metab. 2010. PMID: 20826098
250 results