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Page 1
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: van diggelen op. 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.
Morquio B syndrome: a primary defect in beta-galactosidase.
van der Horst GT, Kleijer WJ, Hoogeveen AT, Huijmans JG, Blom W, van Diggelen OP. van der Horst GT, et al. Among authors: van diggelen op. Am J Med Genet. 1983 Oct;16(2):261-75. doi: 10.1002/ajmg.1320160215. Am J Med Genet. 1983. PMID: 6418007
Studies on the pathogenesis of Costello syndrome.
Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ. Mancini GM, et al. Among authors: van diggelen op. J Med Genet. 2003 Apr;40(4):e37. doi: 10.1136/jmg.40.4.e37. J Med Genet. 2003. PMID: 12676910 Free PMC article. No abstract available.
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, Ausems MG, Ploos van Amstel HK, Poenaru L, Nicolino M, et al. Kroos MA, et al. Among authors: van den boogaard mj, van diggelen op, van der kraan m. J Med Genet. 1995 Oct;32(10):836-7. doi: 10.1136/jmg.32.10.836-a. J Med Genet. 1995. PMID: 8558570 Free PMC article. No abstract available.
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: van weely s, van diggelen op. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075. Hum Genet. 1999. PMID: 10480370
157 results