Kleijer WJ - Search Results

1

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

2

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

3

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

4

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.

5

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy.

Kleijer WJ, Hussaarts-Odijk LM, Los FJ, Pijpers L, De Bree PK, Duran M. Kleijer WJ, et al. Prenat Diagn. 1989 Jun;9(6):401-7. doi: 10.1002/pd.1970090605. Prenat Diagn. 1989. PMID: 2503819

6

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. Among authors: kleijer wj. Prenat Diagn. 1988 Nov;8(9):661-3. doi: 10.1002/pd.1970080905. Prenat Diagn. 1988. PMID: 3211854

7

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. Pediatr Res. 1995 Jul;38(1):103-6. doi: 10.1203/00006450-199507000-00018. Pediatr Res. 1995. PMID: 7478785

8

Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis.

Kleijer WJ, van der Kraan M, Los FJ, Jaspers NG. Kleijer WJ, et al. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S167-74. Int J Radiat Biol. 1994. PMID: 7836844

9

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: kleijer wj. Prenat Diagn. 1994 Jan;14(1):17-22. doi: 10.1002/pd.1970140104. Prenat Diagn. 1994. PMID: 8183833

10

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. Pediatr Res. 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. Pediatr Res. 1996. PMID: 8725271

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