van Diggelen OP - Search Results

1

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: van diggelen op. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.

2

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Among authors: van diggelen op. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

3

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.

Johnson BA, van Diggelen OP, Dajnoki A, Bodamer OA. Johnson BA, et al. Among authors: van diggelen op. Curr Protoc Hum Genet. 2013 Oct 18;79:17.14.1-17.14.9. doi: 10.1002/0471142905.hg1714s79. Curr Protoc Hum Genet. 2013. PMID: 24510650

4

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Among authors: van diggelen op. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353

5

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F. Giuffrè B, et al. Among authors: van diggelen op. J Inherit Metab Dis. 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. J Inherit Metab Dis. 2004. PMID: 15669676

6

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV. Feldhammer M, et al. Among authors: van diggelen op. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Hum Mutat. 2009. PMID: 19479962 Review.

7

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ. Oussoren E, et al. Among authors: van diggelen op. Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4. Mol Genet Metab. 2013. PMID: 23786846

8

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA. Valstar MJ, et al. Among authors: van diggelen op. Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092. Ann Neurol. 2010. PMID: 21061399

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: van der beek nm, van diggelen op. 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

Acquired lysosomal storage caused by frequent plasmapheresis procedures with hydroxyethyl starch.

Auwerda JJ, Leebeek FW, Wilson JH, van Diggelen OP, Lam KH, Sonneveld P. Auwerda JJ, et al. Among authors: van diggelen op. Transfusion. 2006 Oct;46(10):1705-11. doi: 10.1111/j.1537-2995.2006.00962.x. Transfusion. 2006. PMID: 17002626

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