Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.
Open Access
- 1 February 1980
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (1) , 21-26
- https://doi.org/10.1136/jmg.17.1.21
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.This publication has 14 references indexed in Scilit:
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