Reuser AJJ - Search Results

1

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.

2

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

3

Pompe's disease.

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

4

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.

5

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.

6

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT. van den Hout HM, et al. Pediatrics. 2003 Aug;112(2):332-40. doi: 10.1542/peds.112.2.332. Pediatrics. 2003. PMID: 12897283 Free article. Review.

7

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. Neuromuscul Disord. 2004 Jun;14(6):371-4. doi: 10.1016/j.nmd.2004.02.012. Neuromuscul Disord. 2004. PMID: 15145338

8

The natural course of non-classic Pompe's disease; a review of 225 published cases.

Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT. Winkel LP, et al. J Neurol. 2005 Aug;252(8):875-84. doi: 10.1007/s00415-005-0922-9. J Neurol. 2005. PMID: 16133732 Review.

9

Fatigue: an important feature of late-onset Pompe disease.

Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT. Hagemans ML, et al. J Neurol. 2007 Jul;254(7):941-5. doi: 10.1007/s00415-006-0434-2. Epub 2007 Mar 2. J Neurol. 2007. PMID: 17351726 Free PMC article.

10

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

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