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The genotype-phenotype correlation in Pompe disease.
Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. Kroos M, et al. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):59-68. doi: 10.1002/ajmg.c.31318. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22253258 Review.
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: kroos ma. 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.
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: kroos ma. 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. 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
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, van Doorn PA. van der Beek NA, et al. Among authors: kroos ma. Orphanet J Rare Dis. 2012 Nov 12;7:88. doi: 10.1186/1750-1172-7-88. Orphanet J Rare Dis. 2012. PMID: 23147228 Free PMC article.
77 results