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Page 1
The frequency of lysosomal storage diseases in The Netherlands.
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. Poorthuis BJ, et al. Among authors: kleijer wj. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075. Hum Genet. 1999. PMID: 10480370
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A. Bunge S, et al. Among authors: kleijer wj. Hum Mutat. 1997;10(3):223-32. doi: 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J. Hum Mutat. 1997. PMID: 9298823
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.
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.
207 results