van Diggelen OP - Search Results

1

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

2

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

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

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

5

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

6

[The stability of freeze-drying lysosomal enzymes].

Guo Y, Boer M, Keulemans J, Geilen G, Galjaard H, van Diggelen OP. Guo Y, et al. Among authors: van diggelen op. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Jun 10;15(3):167-9. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998. PMID: 9621127 Chinese.

7

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

8

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

9

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.

Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A. Kleijer WJ, et al. Among authors: van diggelen op. Pediatr Res. 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. Pediatr Res. 1996. PMID: 8725271

10

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Morava E, et al. Among authors: van diggelen op, van essen hz. J Inherit Metab Dis. 2005;28(5):703-6. doi: 10.1007/s10545-005-0095-9. J Inherit Metab Dis. 2005. PMID: 16151901

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