par Loeb, Helmut 
;Tondeur, Marianne ;Toppet, Michèle ;Cremer, N.
Référence Acta paediatrica, 58, 3, page (220-228)
Publication Publié, 1969
;Tondeur, Marianne ;Toppet, Michèle ;Cremer, N.Référence Acta paediatrica, 58, 3, page (220-228)
Publication Publié, 1969
Article révisé par les pairs
| Résumé : | 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 |
