Kleijer WJ - Search Results

1

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H. Tacke U, et al. Among authors: kleijer wj. Neuropediatrics. 2005 Aug;36(4):252-5. doi: 10.1055/s-2005-865865. Neuropediatrics. 2005. PMID: 16138249

2

Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.

Zafeiriou DI, Kleijer WJ, Maroupoulos G, Anastasiou AL, Augoustidou-Savvopoulou P, Papadopoulou F, Kontopoulos EE, Fagan E, Payne S. Zafeiriou DI, et al. Among authors: kleijer wj. Brain Dev. 1999 Apr;21(3):205-8. Brain Dev. 1999. PMID: 10372908

3

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NG, Clarkson SG. Zafeiriou DI, et al. Among authors: kleijer wj. Pediatr Res. 2001 Mar;49(3):407-12. doi: 10.1203/00006450-200103000-00016. Pediatr Res. 2001. PMID: 11228268

4

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: kleijer wj. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.

5

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

6

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

7

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

Loonen MC, Van Diggelen OP, Janse HC, Kleijer WJ, Arts WF. Loonen MC, et al. Among authors: kleijer wj. Neuropediatrics. 1985 Aug;16(3):137-42. doi: 10.1055/s-2008-1052558. Neuropediatrics. 1985. PMID: 4047347

8

Genotype versus phenotype in families with androgen insensitivity syndrome.

Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Boehmer AL, et al. Among authors: kleijer wj. J Clin Endocrinol Metab. 2001 Sep;86(9):4151-60. doi: 10.1210/jcem.86.9.7825. J Clin Endocrinol Metab. 2001. PMID: 11549642 Free article.

9

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

Bunge S, Clements PR, Byers S, Kleijer WJ, Brooks DA, Hopwood JJ. Bunge S, et al. Among authors: kleijer wj. Biochim Biophys Acta. 1998 Sep 30;1407(3):249-56. doi: 10.1016/s0925-4439(98)00046-5. Biochim Biophys Acta. 1998. PMID: 9748610 Free article.

10

Clinical, biochemical and molecular findings in a two-generation Morquio A family.

Tylki-Szymańska A, Czartoryska B, Bunge S, van Diggelen OP, Kleijer WJ, Poorthuis BJ, Huijmans JG, Górska D. Tylki-Szymańska A, et al. Among authors: kleijer wj. Clin Genet. 1998 May;53(5):369-74. doi: 10.1111/j.1399-0004.1998.tb02747.x. Clin Genet. 1998. PMID: 9660054

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