Kleijer WJ - Search Results

1

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

Morrone A, Morreau H, Zhou XY, Zammarchi E, Kleijer WJ, Galjaard H, d'Azzo A. Morrone A, et al. Among authors: kleijer wj. Hum Mutat. 1994;3(2):112-20. doi: 10.1002/humu.1380030205. Hum Mutat. 1994. PMID: 8199591

2

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

3

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

4

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

5

Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases.

Sachs ES, Jahoda MG, Kleijer WJ, Pijpers L, Galjaard H. Sachs ES, et al. Among authors: kleijer wj. Am J Med Genet. 1988 Feb;29(2):293-303. doi: 10.1002/ajmg.1320290208. Am J Med Genet. 1988. PMID: 3354601

6

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Hermans MM, et al. Among authors: kleijer wj. Hum Mutat. 1998;11(3):209-15. doi: 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C. Hum Mutat. 1998. PMID: 9521422

7

Lysosomal enzyme activities in different types of amniotic fluid cells measured by microchemical methods, combined with interference microscopy.

Van der Veer E, Kleijer WJ, de Josselin de Jong JE, Galjaard H. Van der Veer E, et al. Among authors: kleijer wj. Hum Genet. 1978 Feb 16;40(3):285-92. doi: 10.1007/BF00272189. Hum Genet. 1978. PMID: 631847

8

Evidence for the deficiency of beta-glucosidase-activating factor in fibroblasts of patients with I-cell disease.

Varon R, Kleijer WJ, Thompson EJ, d'Azzo A. Varon R, et al. Among authors: kleijer wj. Hum Genet. 1982;62(1):66-9. doi: 10.1007/BF00295605. Hum Genet. 1982. PMID: 6818133

9

Prenatal diagnosis of genetic metabolic diseases in 118 pregnancies at risk.

Kleijer WJ, Niermeijer MF, Galjaard H. Kleijer WJ, et al. Monogr Hum Genet. 1978;9:217-21. doi: 10.1159/000401639. Monogr Hum Genet. 1978. PMID: 569765 No abstract available.

10

Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants.

Besley GT, Hoogeboom AJ, Hoogeveen A, Kleijer WJ, Galjaard H. Besley GT, et al. Among authors: kleijer wj. Hum Genet. 1980;54(3):409-12. doi: 10.1007/BF00291589. Hum Genet. 1980. PMID: 6249719

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