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Research Article
Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.
  1. D I McCallum,
  2. R F Macadam,
  3. A W Johnston

    Abstract

    Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.

    https://doi.org/10.1136/jmg.17.1.21

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