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Research Article
Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.
  1. T E Kelly,
  2. H A Taylor

    Abstract

    Assay of alpha-L-iduronidase in peripheral leucocytes is a rapid and simple diagnostic aid in mucopolysaccharidosis I. The mean value for heterozygotes is one-half the value of normal controls, but overlap between the two groups occurs. Use of this assay may be helpful in genetic counselling of selected couples.

    https://doi.org/10.1136/jmg.13.2.149

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