van Diggelen OP - Search Results

1

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: van de kamp j, van diggelen op. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.

2

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.

3

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

4

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

5

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

Asfaw B, Ledvinová J, Dobrovolńy R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D. Asfaw B, et al. Among authors: van diggelen op. J Lipid Res. 2002 Jul;43(7):1096-104. doi: 10.1194/jlr.m100423-jlr200. J Lipid Res. 2002. PMID: 12091494 Free article.

6

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

7

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L. Kopra O, et al. Among authors: van diggelen op. Hum Mol Genet. 2004 Dec 1;13(23):2893-906. doi: 10.1093/hmg/ddh312. Epub 2004 Sep 30. Hum Mol Genet. 2004. PMID: 15459177

8

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

9

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R. de Jong J, et al. J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. J Pediatr. 1994. PMID: 8071745

10

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. Among authors: van der ploeg at, van diggelen op. Pediatrics. 2003 Aug;112(2):332-40. doi: 10.1542/peds.112.2.332. Pediatrics. 2003. PMID: 12897283 Free article. Review.

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