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

Ítems similars

• Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
  per: Raas-Rothschild, Annick, et al.
  Publicat: (2000)
• Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
  per: Song, Junghan, et al.
  Publicat: (2003)
• Mucolipidosis III GNPTG missense mutations cause misfolding of the γ subunit of GlcNAc-1-phosphotransferase
  per: van Meel, Eline, et al.
  Publicat: (2016)
• Role of Spacer-1 in the Maturation and Function of GlcNAc-1-Phosphotransferase
  per: Liu, Lin, et al.
  Publicat: (2017)
• Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
  per: Ben-Yoseph, Y, et al.
  Publicat: (1987)