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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
Glycogenosis type II (acid maltase deficiency).
Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT. Reuser AJ, et al. Among authors: kleijer wj. Muscle Nerve Suppl. 1995;3:S61-9. doi: 10.1002/mus.880181414. Muscle Nerve Suppl. 1995. PMID: 7603530 Free article. Review.
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: kleijer wj. 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.
207 results