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  1. No Access

    Article

    pH-Dependent association-dissociation of high and low activity plasma a-l-fucosidase

    Population and family studies have confirmed the existence of a plasma a-l-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estim...

    Patrick J. Willems, Enrico Romeo, Wilfried R. Den Tandt… in Human Genetics (1981)

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    Article

    Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote

    Serum N-acetyl-beta-D-hexosaminidase is compared quantitatively and qualitatively in 14 obligate heterozygotes for the mutant gene causing I cell disease (ICD) or mucolipidosis II and in 31 normal controls. Th...

    August F. Van Elsen, Jules G. Leroy, Frans J. Vanneuville… in Human Genetics (1976)

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    Article

    I-Cell disease (mucolipidosis type II) serum hydrolases in obligate heterozygotes

    The mean activities of N-acetyl-β-D-glucosaminidase, β-D-glucuronidase, arylsulphatase A and β-D-galactosidase in the serum of 10 proved heterozygotes for the mutant gene causing I-cell disease (ICD) are signi...

    Jules G. Leroy, August F. Van Elsen in Humangenetik (1973)