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

The biochemical abnormalities of I-cell disease (mucolipidosis II) and pseudo-Hurler polydystrophy (mucolipidosis III) can be explained by a deficiency of the enzyme UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We demonstrate here that obligate heterozygotes for...

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Main Authors: Varki, A, Reitman, M L, Vannier, A, Kornfeld, S, Grubb, J H, Sly, W S
Formato: Artigo
Idioma:Inglês
Publicado em: 1982
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685437/
https://ncbi.nlm.nih.gov/pubmed/6289658
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