van Diggelen OP - Search Results

1

Morquio B syndrome: a primary defect in beta-galactosidase.

van der Horst GT, Kleijer WJ, Hoogeveen AT, Huijmans JG, Blom W, van Diggelen OP. van der Horst GT, et al. Among authors: van diggelen op. Am J Med Genet. 1983 Oct;16(2):261-75. doi: 10.1002/ajmg.1320160215. Am J Med Genet. 1983. PMID: 6418007

2

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

3

Enzymatic diagnosis of Morquio A syndrome with a new fluorimetric substrate.

Zhao H, van Diggelen OP, Kleijer WJ, Li P. Zhao H, et al. Among authors: van diggelen op. Chin Med Sci J. 1991 Mar;6(1):9-13. Chin Med Sci J. 1991. PMID: 1786409

4

Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency.

van Diggelen OP, Hoogeveen AT, Smith PJ, Reuser AJ, Galjaard H. van Diggelen OP, et al. Biochim Biophys Acta. 1982 Apr 21;703(1):69-76. doi: 10.1016/0167-4838(82)90012-7. Biochim Biophys Acta. 1982. PMID: 6803839 No abstract available.

5

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A. Bunge S, et al. Among authors: van diggelen op. J Med Genet. 1999 Jan;36(1):28-31. J Med Genet. 1999. PMID: 9950362 Free PMC article.

6

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

7

Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.

Zhao H, Van Diggelen OP, Thoomes R, Huijmans J, Young E, Mazurczak T, Kleijer WJ. Zhao H, et al. Among authors: van diggelen op. Prenat Diagn. 1990 Feb;10(2):85-91. doi: 10.1002/pd.1970100204. Prenat Diagn. 1990. PMID: 2111546 Free article.

8

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).

van Diggelen OP, Zhao H, Kleijer WJ, Janse HC, Poorthuis BJ, van Pelt J, Kamerling JP, Galjaard H. van Diggelen OP, et al. Among authors: van pelt j. Clin Chim Acta. 1990 Feb 28;187(2):131-9. doi: 10.1016/0009-8981(90)90339-t. Clin Chim Acta. 1990. PMID: 2107987

9

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

van Diggelen OP, Schindler D, Willemsen R, Boer M, Kleijer WJ, Huijmans JG, Blom W, Galjaard H. van Diggelen OP, et al. J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424. J Inherit Metab Dis. 1988. PMID: 3149698

10

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

Loonen MC, Van Diggelen OP, Janse HC, Kleijer WJ, Arts WF. Loonen MC, et al. Among authors: van diggelen op. Neuropediatrics. 1985 Aug;16(3):137-42. doi: 10.1055/s-2008-1052558. Neuropediatrics. 1985. PMID: 4047347

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