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

類似資料

• Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
  著者:: Reitman, M L, 等
  出版事項: (1981)
• 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)
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• Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
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• 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)