Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

類似資料

• Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
  著者:: Song, Junghan, 等
  出版事項: (2003)
• Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gene
  著者:: Kudo, Mariko, 等
  出版事項: (2006)
• Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
  著者:: Varki, A P, 等
  出版事項: (1981)
• Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
  著者:: Ben-Yoseph, Y, 等
  出版事項: (1987)
• Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
  著者:: Varki, A, 等
  出版事項: (1982)