Kleijer WJ - Search Results

1

Complementation studies in human and caprine beta-mannosidosis.

Hu P, Wenger DA, van Diggelen OP, Kleijer WJ. Hu P, et al. Among authors: kleijer wj. J Inherit Metab Dis. 1991;14(1):13-7. doi: 10.1007/BF01804382. J Inherit Metab Dis. 1991. PMID: 1861455

2

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JG, Blom W, Van Diggelen OP, Seemanova E, Macek M. Kleijer WJ, et al. J Inherit Metab Dis. 1990;13(6):867-72. doi: 10.1007/BF01800211. J Inherit Metab Dis. 1990. PMID: 2079835

3

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. Among authors: kleijer wj. J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424. J Inherit Metab Dis. 1988. PMID: 3149698

4

beta-Mannosidase in human leukocytes and fibroblasts.

Panday RS, van Diggelen OP, Kleijer WJ, Niermeijer MF. Panday RS, et al. Among authors: kleijer wj. J Inherit Metab Dis. 1984;7(4):155-6. doi: 10.1007/BF01805598. J Inherit Metab Dis. 1984. PMID: 6441861

5

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: kleijer wj. J Inherit Metab Dis. 1993;16(6):935-41. doi: 10.1007/BF00711508. J Inherit Metab Dis. 1993. PMID: 8127069

6

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

Kleijer WJ, Keulemans JL, van der Kraan M, Geilen GG, van der Helm RM, Rafi MA, Luzi P, Wenger DA, Halley DJ, van Diggelen OP. Kleijer WJ, et al. J Inherit Metab Dis. 1997 Aug;20(4):587-94. doi: 10.1023/a:1005315311165. J Inherit Metab Dis. 1997. PMID: 9266397

7

Prenatal analyses in a pregnancy at risk for beta-mannosidosis.

Kleijer WJ, Geilen GC, Van Diggelen OP, Wevers RA, Los FJ. Kleijer WJ, et al. Prenat Diagn. 1992 Oct;12(10):841-3. doi: 10.1002/pd.1970121011. Prenat Diagn. 1992. PMID: 1475254

8

Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.

Hu P, Reuser AJ, Janse HC, Kleijer WJ, Schindler D, Sakuraba H, Tsuji A, Suzuki Y, van Diggelen OP. Hu P, et al. Among authors: kleijer wj. Biochem Biophys Res Commun. 1991 Mar 29;175(3):1097-103. doi: 10.1016/0006-291x(91)91678-6. Biochem Biophys Res Commun. 1991. PMID: 2025241

9

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: kleijer wj. Clin Chim Acta. 1990 Feb 28;187(2):131-9. doi: 10.1016/0009-8981(90)90339-t. Clin Chim Acta. 1990. PMID: 2107987

10

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: kleijer wj. Prenat Diagn. 1990 Feb;10(2):85-91. doi: 10.1002/pd.1970100204. Prenat Diagn. 1990. PMID: 2111546 Free article.

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