CLINICAL, BIOCHEMICAL AND ULTRASTRUCTURAL STUDIES OF AN ATYPICAL FORM OF MUCOPOLYSACCHARIDOSIS
- 1 May 1969
- journal article
- Published by Wiley in Acta Paediatrica
- Vol. 58 (3) , 220-228
- https://doi.org/10.1111/j.1651-2227.1969.tb04710.x
Abstract
Summary: Two children, brother and sister, presenting a clinically peculiar form of mucopolysaccharidosis are reported. There exists a discrepancy between clinical and radiological data and biochemical findings. Enzyme study of the liver discloses a striking hyperactivity of the acid /J‐galactosidase. Hepatic ultrastructure differs from that of other previous descriptions of mucopolysaccharidoses, demonstrating a complex storage of lipids and mucopolysaccharides within swollen lysosomes.Keywords
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