Reuser AJ - Search Results

1

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

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

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

4

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

5

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

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

The genotype-phenotype correlation in Pompe disease.

Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. Kroos M, et al. Among authors: reuser aj. 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.

9

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ. Wens SC, et al. Among authors: reuser aj. Mol Genet Metab. 2012 Nov;107(3):485-9. doi: 10.1016/j.ymgme.2012.09.003. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23000108

10

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

200 results

Search Page

Filters