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Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis
Journal of Medical Genetics
|February 1, 1980
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.