Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

Gelijkaardige items

• Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
  door: Varki, A P, et al.
  Gepubliceerd in: (1981)
• Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
  door: Varki, A, et al.
  Gepubliceerd in: (1982)
• Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
  door: Ben-Yoseph, Y, et al.
  Gepubliceerd in: (1987)
• Preparation of Uridine Diphosphate-N-Acetylgalactosamine from Uridine Diphosphate-N-Acetylglucosamine by Using Microbial Enzymes
  door: Yamamoto, Kenji, et al.
  Gepubliceerd in: (1981)
• Evidence for the occurrence of uridine diphosphate N-acetylglucosamine in crustacean tissues
  door: Lunt, Mary R., et al.
  Gepubliceerd in: (1961)