Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis

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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.

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McCallum, D. I., Macadam, R. F., & Johnston, A. W. (1980). Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis. Journal of Medical Genetics, 17(1), 21–26. https://doi.org/10.1136/jmg.17.1.21

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