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

A. Varki, M. L. Reitman, A. Vannier, S. Kornfeld, J. H. Grubb, W. S. Sly

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Medicine & Life Sciences