Kleijer WJ - Search Results

1

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA. Sistermans EA, et al. Among authors: kleijer wj. Eur J Hum Genet. 2000 Jul;8(7):557-60. doi: 10.1038/sj.ejhg.5200477. Eur J Hum Genet. 2000. PMID: 10909858

2

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: kleijer wj. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

3

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: kleijer wj. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.

4

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA. Ligtenberg MJ, et al. Among authors: kleijer wj. Am J Hum Genet. 1995 Jan;56(1):44-50. Am J Hum Genet. 1995. PMID: 7825602 Free PMC article.

5

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. Bikker H, et al. Among authors: kleijer wj. Hum Mutat. 2006 Jul;27(7):640-3. doi: 10.1002/humu.20373. Hum Mutat. 2006. PMID: 16752391

6

Coexistence of Gaucher disease type 1 and Joubert syndrome.

van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Diggelen OP, Aerts JM, Hopwood JJ, Beemer FA. van Royen-Kerkhof A, et al. Among authors: kleijer wj. J Med Genet. 1998 Nov;35(11):965-6. doi: 10.1136/jmg.35.11.965. J Med Genet. 1998. PMID: 9832051 Free PMC article. No abstract available.

7

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

8

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: kleijer wj. Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213. Hum Mol Genet. 1994. PMID: 7881422

9

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: kleijer wj. Hum Genet. 1997 Apr;99(4):462-8. doi: 10.1007/s004390050389. Hum Genet. 1997. PMID: 9099834

10

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

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