Reuser AJ - Search Results

1

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.

Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ. Okumiya T, et al. Among authors: reuser aj. Mol Genet Metab. 2007 Jan;90(1):49-57. doi: 10.1016/j.ymgme.2006.09.010. Epub 2006 Nov 13. Mol Genet Metab. 2007. PMID: 17095274

2

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. 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.

3

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: reuser aj. Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286. Hum Mutat. 2004. PMID: 14695532

4

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

Kroos MA, Kirschner J, Gellerich FN, Hermans MM, Van Der Ploeg AT, Reuser AJ, Korinthenberg R. Kroos MA, et al. Among authors: reuser aj. Neuromuscul Disord. 2004 Jun;14(6):371-4. doi: 10.1016/j.nmd.2004.02.012. Neuromuscul Disord. 2004. PMID: 15145338

5

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ. Okumiya T, et al. Among authors: reuser aj. Mol Genet Metab. 2006 May;88(1):22-8. doi: 10.1016/j.ymgme.2005.10.016. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16359900

6

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: reuser aj. 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

7

Pompe's disease.

van der Ploeg AT, Reuser AJ. van der Ploeg AT, et al. Among authors: reuser aj. Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. Lancet. 2008. PMID: 18929906 Review.

8

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, Kroos MA, Reuser AJ, Okumiya T. Kumamoto S, et al. Among authors: reuser aj. Mol Genet Metab. 2009 Jul;97(3):190-5. doi: 10.1016/j.ymgme.2009.03.004. Epub 2009 Mar 18. Mol Genet Metab. 2009. PMID: 19362502

9

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: reuser aj. 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

10

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T. Shigeto S, et al. Among authors: reuser aj. Mol Genet Metab. 2011 May;103(1):12-7. doi: 10.1016/j.ymgme.2011.01.006. Epub 2011 Jan 22. Mol Genet Metab. 2011. PMID: 21320792

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