Congenital Expression of Prolidase Defect in Prolidase Deficiency
- 1 March 1984
- journal article
- research article
- Published by Springer Nature in Pediatric Research
- Vol. 18 (3) , 259-261
- https://doi.org/10.1203/00006450-198403000-00008
Abstract
Summary: Newborn blood from three siblings with prolidase deficiency contained no detectable prolidase activity. Umbilical cord blood contained no prolidase activity in one sibling and only 6.8% of control activity in another sibling. In prolidase deficiency the enzyme defect is expressed at birth, well before the appearance of skin ulcers, and is demonstrable in filter paper specimens of blood obtained for routine screening.This publication has 6 references indexed in Scilit:
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