van Diggelen OP - Search Results

1

Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.

Kleijer WJ, Karpova EA, Geilen GC, Keulemans JL, Huijmans JG, Tsvetkova IV, Voznyi YaV, van Diggelen OP. Kleijer WJ, et al. Among authors: van diggelen op. Prenat Diagn. 1996 Sep;16(9):829-35. doi: 10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H. Prenat Diagn. 1996. PMID: 8905897

2

First trimester diagnosis of Wolman's disease.

van Diggelen OP, von Koskull H, Ammälä P, Vredeveldt GT, Janse HC, Kleijer WJ. van Diggelen OP, et al. Prenat Diagn. 1988 Nov;8(9):661-3. doi: 10.1002/pd.1970080905. Prenat Diagn. 1988. PMID: 3211854

3

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

He W, Voznyi YaV, Boer AM, Kleijer WJ, van Diggelen OP. He W, et al. Among authors: van diggelen op. J Inherit Metab Dis. 1993;16(6):935-41. doi: 10.1007/BF00711508. J Inherit Metab Dis. 1993. PMID: 8127069

4

Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

He W, Voznyi YaV, Huijmans JG, Geilen GC, Karpova EA, Dudukina TV, Zaremba J, Van Diggelen OP, Kleijer WJ. He W, et al. Among authors: van diggelen op. Prenat Diagn. 1994 Jan;14(1):17-22. doi: 10.1002/pd.1970140104. Prenat Diagn. 1994. PMID: 8183833

5

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.

6

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.

de Vries BB, Kleijer WJ, Keulemans JL, Voznyi YV, Franken PF, Eurlings MC, Galjaard RJ, Losekoot M, Catsman-Berrevoets CE, Breuning MH, Taschner PE, van Diggelen OP. de Vries BB, et al. Among authors: van diggelen op. Prenat Diagn. 1999 Jun;19(6):559-62. Prenat Diagn. 1999. PMID: 10416973

7

First-trimester diagnosis of Morquio disease type A.

Kleijer WJ, Geilen GC, Garritsen V, Huijmans JG, Los FJ, Voznyi YV, van Diggelen OP. Kleijer WJ, et al. Among authors: van diggelen op. Prenat Diagn. 2000 Mar;20(3):183-5. Prenat Diagn. 2000. PMID: 10719317

8

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants.

Voznyi YV, Keulemans JL, Mancini GM, Catsman-Berrevoets CE, Young E, Winchester B, Kleijer WJ, van Diggelen OP. Voznyi YV, et al. Among authors: van diggelen op. J Med Genet. 1999 Jun;36(6):471-4. J Med Genet. 1999. PMID: 10874636 Free PMC article.

9

Prenatal diagnosis of the neuronal ceroid lipofuscinoses.

Kleijer WJ, van Diggelen OP. Kleijer WJ, et al. Among authors: van diggelen op. Prenat Diagn. 2000 Oct;20(10):819-21. doi: 10.1002/1097-0223(200010)20:10<819::aid-pd933>3.0.co;2-m. Prenat Diagn. 2000. PMID: 11038460 Review. No abstract available.

10

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.

Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ. Kleijer WJ, et al. Among authors: van diggelen op. Prenat Diagn. 2001 Feb;21(2):99-101. doi: 10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f. Prenat Diagn. 2001. PMID: 11241534

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