van Diggelen OP - Search Results

1

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ. van Diggelen OP, et al. J Inherit Metab Dis. 2009 Jun;32(3):416-23. doi: 10.1007/s10545-009-1082-3. Epub 2009 Apr 19. J Inherit Metab Dis. 2009. PMID: 19387865

2

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

van Diggelen OP, Voznyi YV, Keulemans JL, Schoonderwoerd K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer K. van Diggelen OP, et al. J Inherit Metab Dis. 2005;28(5):733-41. doi: 10.1007/s10545-005-0105-y. J Inherit Metab Dis. 2005. PMID: 16151905

3

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. Kroos MA, et al. Among authors: van der ploeg at, van der beek na, van diggelen op. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890

4

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT. Kleijer WJ, et al. Among authors: van der ploeg at, van diggelen op, van der kraan m. Pediatr Res. 1995 Jul;38(1):103-6. doi: 10.1203/00006450-199507000-00018. Pediatr Res. 1995. PMID: 7478785

5

Glycogenosis type II (acid maltase deficiency).

Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT. Reuser AJ, et al. Among authors: van der ploeg at, van diggelen op. Muscle Nerve Suppl. 1995;3:S61-9. doi: 10.1002/mus.880181414. Muscle Nerve Suppl. 1995. PMID: 7603530 Free article. Review.

6

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA).

Karpova EA, Voznyi YaV, Keulemans JL, Hoogeveen AT, Winchester B, Tsvetkova IV, van Diggelen OP. Karpova EA, et al. Among authors: van diggelen op. J Inherit Metab Dis. 1996;19(3):278-85. doi: 10.1007/BF01799255. J Inherit Metab Dis. 1996. PMID: 8803769 Free article.

7

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.

Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ. Kroos MA, et al. Among authors: van diggelen op, van der kraan m. Hum Mutat. 1997;9(1):17-22. doi: 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M. Hum Mutat. 1997. PMID: 8990003

8

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

9

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

Voznyi YV, Keulemans JL, van Diggelen OP. Voznyi YV, et al. Among authors: van diggelen op. J Inherit Metab Dis. 2001 Nov;24(6):675-80. doi: 10.1023/a:1012763026526. J Inherit Metab Dis. 2001. PMID: 11768586

10

Enzymatic and molecular strategies to diagnose Pompe disease.

Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D. Reuser A, et al. Among authors: van diggelen o. Expert Opin Med Diagn. 2010 Jan;4(1):79-89. doi: 10.1517/17530050903460300. Epub 2009 Dec 1. Expert Opin Med Diagn. 2010. PMID: 23496111

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

157 results

Search Page

Filters