PRENATAL AND POSTNATAL DIAGNOSIS OF DISEASES OF COPPER-METABOLISM
- 1 January 1982
- journal article
- research article
- Vol. 12 (5) , 372-380
Abstract
Menkes'' kinky hair disease can be successfully diagnosed both prenatally and postnatally using cultured skin fibroblasts derived from the patient or amniotic fluid cells from the affected fetus. Determination of intracellular Cu concentration under normal and Cu loaded conditions, as well as examination of the kinetics of Cu retention may be necessary for diagnosis. At present, cell culture techniques have been proven to be applicable for postnatal diagnosis of Wilson''s disease. More investigation is necessary to determine whether or not the present method for prenatal diagnosis of this disease is possible.This publication has 22 references indexed in Scilit:
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