CLINICAL BIOCHEMICAL AND ULTRASTRUCTURAL STUDIES OF AN ATYPICAL FORM OF MUCOPOLYSACCHARIDOSIS

被引：44

作者：

LOEB, H

TONDEUR, M

TOPPET, M

CREMER, N

机构：

[1] Departments of Paediatrics and Electron Microscopy and Pathology, University Hospital, Brussels

[2] Service de Pédiatrie, Hopital St. Pierre, Bruxelles

来源：

ACTA PAEDIATRICA SCANDINAVICA | 1969年 / 58卷 / 03期

关键词：

atypical form; enzyme pattern; hepatic ultrastructure; Mucopolysaccharidosis;

D O I：

10.1111/j.1651-2227.1969.tb04710.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. Copyright © 1969, Wiley Blackwell. All rights reserved

引用

页码：220 / &

共 41 条

[1] ELECTRON MICROSCOPY OF 2 CEREBRAL BIOPSIES IN GARGOYLISM [J].