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Histochemical detection of the enzyme deficiency in blood films in Wolman's disease
Abstract
The clinical diagnosis of Wolman's disease (acid esterase deficiency) can be confirmed by a histochemical staining method using blood films. Acid esterase activity is found normally in lymphocytes, but in Wolman's disease only a very low level of activity can be detected. An intermediate level of activity was demonstrated in heterozygotes. The method may also be applicable in the prenatal detection of the disease.
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