van Diggelen OP - Search Results

1

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.

Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, Hopwood JJ, Meikle PJ. Umapathysivam K, et al. Among authors: van diggelen op. Clin Chem. 2000 Sep;46(9):1318-25. Clin Chem. 2000. PMID: 10973860

2

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ. Weber B, et al. Among authors: van de kamp jj, van diggelen op. J Inherit Metab Dis. 1998 Jun;21(4):416-22. doi: 10.1023/a:1005362826552. J Inherit Metab Dis. 1998. PMID: 9700599

3

Coexistence of Gaucher disease type 1 and Joubert syndrome.

van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Diggelen OP, Aerts JM, Hopwood JJ, Beemer FA. van Royen-Kerkhof A, et al. Among authors: van diggelen op. J Med Genet. 1998 Nov;35(11):965-6. doi: 10.1136/jmg.35.11.965. J Med Genet. 1998. PMID: 9832051 Free PMC article. No abstract available.

4

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A. Bunge S, et al. Among authors: van diggelen op. Hum Mutat. 1997;10(6):479-85. doi: 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9401012

5

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.

Ruijter GJ, Boer M, Weykamp CW, de Vries R, van den Berg I, Janssens-Puister J, Niezen-Koning K, Wevers RA, Poorthuis BJ, van Diggelen OP. Ruijter GJ, et al. Among authors: van den berg i, van diggelen op. J Inherit Metab Dis. 2005;28(6):979-90. doi: 10.1007/s10545-005-0201-z. J Inherit Metab Dis. 2005. PMID: 16435191

6

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: van diggelen op. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

7

A diagnostic protocol for adult-onset glycogen storage disease type II.

Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH. Ausems MG, et al. Among authors: van diggelen op. Neurology. 1999 Mar 10;52(4):851-3. doi: 10.1212/wnl.52.4.851. Neurology. 1999. PMID: 10078739

8

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

Guo Y, He W, Boer AM, Wevers RA, de Bruijn AM, Groener JE, Hollak CE, Aerts JM, Galjaard H, van Diggelen OP. Guo Y, et al. Among authors: van diggelen op. J Inherit Metab Dis. 1995;18(6):717-22. doi: 10.1007/BF02436762. J Inherit Metab Dis. 1995. PMID: 8750610

9

Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.

van Diggelen OP, Janse HC, Smit GP. van Diggelen OP, et al. Clin Chim Acta. 1985 Jul 15;149(2-3):129-34. doi: 10.1016/0009-8981(85)90326-2. Clin Chim Acta. 1985. PMID: 3161667

10

The frequency of lysosomal storage diseases in The Netherlands.

Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. Poorthuis BJ, et al. Among authors: van weely s, van diggelen op. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075. Hum Genet. 1999. PMID: 10480370

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