Reuser AJ - Search Results

1

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

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

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.

Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT. Winkel LP, et al. Among authors: reuser aj. Muscle Nerve. 2003 Jun;27(6):743-51. doi: 10.1002/mus.10381. Muscle Nerve. 2003. PMID: 12766987

4

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

5

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Winkel LP, et al. Among authors: reuser aj. Ann Neurol. 2004 Apr;55(4):495-502. doi: 10.1002/ana.20019. Ann Neurol. 2004. PMID: 15048888

6

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: reuser aj. Pediatrics. 2004 May;113(5):e448-57. doi: 10.1542/peds.113.5.e448. Pediatrics. 2004. PMID: 15121988

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. 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

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. Among authors: reuser aj. J Neurol. 2005 Aug;252(8):875-84. doi: 10.1007/s00415-005-0922-9. J Neurol. 2005. PMID: 16133732 Review.

9

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

10

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

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