ムコ多糖症 (Japanese Wikipedia)

Analysis of information sources in references of the Wikipedia article "ムコ多糖症" in Japanese language version.

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corporate-ir.net

phx.corporate-ir.net

japan-lsd-mhlw.jp

  • 厚生労働省難治性疾患克服研究事業-ライソゾーム病(ファブリー病含む)に関する調査研究班-[1]

muconet.jp

nih.gov

ncbi.nlm.nih.gov

  • Meikle P.J. et al., 1999. Prevalence of lysosomal storage disorders. JAMA 281:249-254.PubMed
  • Kakkis, E.D. et al., 1994. Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr. Purif. 5:225-232. PubMed
  • Clarke, L.A. et al., 1997. Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. Hum. Mol. Genet. 6:503-511. PubMed
  • Kakkis E.D. et al., 2001. Enzyme-replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 344:182-188. PubMed
  • Kakkis, E. et al., 2004. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol. Genet. Metab. 83:163-174.PubMed
  • Dickson, P. et al., 2007. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab. 91:61-68.PubMed
  • Muenzer, J. et al., 2006. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet. Med. 8:465-473 PubMed
  • Muenzer, J. et al., 2007. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol. Genet. Metab. 90:329-337. PubMed
  • Meikle P.J. et al., 2004. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 114:909-916.PubMed
  • Meikle, P.J. et al., 2006. Newborn screening for lysosomal storage disorders. Mol. Genet. Metab. 88:307-314.PubMed

pmda.go.jp

info.pmda.go.jp

pnas.org

  • Bach, G. et al., 1973. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc. Natl. Acad. Sci. USA 70:2134-2138. PDF
  • Wilson, P.J. et al., 1990. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc. Natl. Acad. Sci. USA 87:8531-8535. PDF