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

Podobne knjige/članki

• Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
  od: Song, Junghan, et al.
  Izdano: (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
  od: Kudo, Mariko, et al.
  Izdano: (2006)
• Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
  od: Varki, A P, et al.
  Izdano: (1981)
• Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
  od: Ben-Yoseph, Y, et al.
  Izdano: (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.
  od: Varki, A, et al.
  Izdano: (1982)