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. 1980 Feb;17(1):21–26. doi: 10.1136/jmg.17.1.21

Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.

D I McCallum, R F Macadam, A W Johnston
PMCID: PMC1048482  PMID: 6767848

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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Selected References

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