van Diggelen OP - Search Results

1

The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

Beyer EM, Karpova EA, Udalova OV, Ploos van Amstel JK, van Diggelen OP, Tsvetkova IV. Beyer EM, et al. Among authors: van diggelen op. Clin Chim Acta. 1999 Feb;280(1-2):81-9. doi: 10.1016/s0009-8981(98)00133-8. Clin Chim Acta. 1999. PMID: 10090526

2

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J, Ploos van Amstel JK, Poll-The BT. Knol IE, et al. Among authors: van diggelen op. Am J Med Genet. 1999 Feb 19;82(5):436-9. doi: 10.1002/(sici)1096-8628(19990219)82:5<436::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 10069717

3

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C).

Voznyi YaV, Karpova EA, Dudukina TV, Tsvetkova IV, Boer AM, Janse HC, van Diggelen OP. Voznyi YaV, et al. Among authors: van diggelen op. J Inherit Metab Dis. 1993;16(2):465-72. doi: 10.1007/BF00710299. J Inherit Metab Dis. 1993. PMID: 8412007

4

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

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

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

7

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

8

Prenatal diagnosis of Niemann-Pick disease type C.

de Winter JM, Janse HC, van Diggelen OP, Los FJ, Beemer FA, Kleijer WJ. de Winter JM, et al. Among authors: van diggelen op. Clin Chim Acta. 1992 Jun 30;208(3):173-81. doi: 10.1016/0009-8981(92)90074-z. Clin Chim Acta. 1992. PMID: 1499136

9

Clinical, biochemical and molecular findings in a two-generation Morquio A family.

Tylki-Szymańska A, Czartoryska B, Bunge S, van Diggelen OP, Kleijer WJ, Poorthuis BJ, Huijmans JG, Górska D. Tylki-Szymańska A, et al. Among authors: van diggelen op. Clin Genet. 1998 May;53(5):369-74. doi: 10.1111/j.1399-0004.1998.tb02747.x. Clin Genet. 1998. PMID: 9660054

10

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO. de Vries BB, et al. Among authors: van der heide a, van diggelen op, van hemel jo. Am J Med Genet. 1999 Nov 19;87(2):189-94. doi: 10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.3.co;2-h. Am J Med Genet. 1999. PMID: 10533035

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