Hoogeveen-Westerveld M - Search Results

1

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

van Kooten HA, Ditters IAM, Hoogeveen-Westerveld M, Jacobs EH, van den Hout JMP, van Doorn PA, Pijnappel WWMP, van der Ploeg AT, van der Beek NAME. van Kooten HA, et al. Among authors: hoogeveen westerveld m. Orphanet J Rare Dis. 2022 Feb 2;17(1):31. doi: 10.1186/s13023-022-02175-2. Orphanet J Rare Dis. 2022. PMID: 35109913 Free PMC article.

2

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

Hoefsloot LH, Willemsen R, Kroos MA, Hoogeveen-Westerveld M, Hermans MM, Van der Ploeg AT, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Biochem J. 1990 Dec 1;272(2):485-92. doi: 10.1042/bj2720485. Biochem J. 1990. PMID: 2268275 Free PMC article.

3

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

Hoefsloot LH, van der Ploeg AT, Kroos MA, Hoogeveen-Westerveld M, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Am J Hum Genet. 1990 Jan;46(1):45-52. Am J Hum Genet. 1990. PMID: 2403755 Free PMC article.

4

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

Van der Ploeg AT, Hoefsloot LH, Hoogeveen-Westerveld M, Petersen EM, Reuser AJ. Van der Ploeg AT, et al. Am J Hum Genet. 1989 Jun;44(6):787-93. Am J Hum Genet. 1989. PMID: 2658562 Free PMC article.

5

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.

6

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22644586

7

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. 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

8

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ. Brands MM, et al. Orphanet J Rare Dis. 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51. Orphanet J Rare Dis. 2013. PMID: 23557332 Free PMC article.

9

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ. van Gelder CM, et al. J Inherit Metab Dis. 2015 Mar;38(2):305-14. doi: 10.1007/s10545-014-9707-6. Epub 2014 Apr 9. J Inherit Metab Dis. 2015. PMID: 24715333 Free PMC article.

10

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW. Bergsma AJ, et al. Hum Mutat. 2015 Jan;36(1):57-68. doi: 10.1002/humu.22705. Epub 2014 Dec 1. Hum Mutat. 2015. PMID: 25243733

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