Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.

Ítems similars

• Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
  per: Reitman, M L, et al.
  Publicat: (1981)
• Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
  per: Varki, A P, et al.
  Publicat: (1981)
• 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)
• Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
  per: Ben-Yoseph, Y, et al.
  Publicat: (1987)