Biochemical and ultrastructural diagnostic problems in mucolipidoses

• Published in: Acta paediatrica Hungarica Vol. 31; no. 4; p. 423
• Main Authors: László, A, Lászik, Z, Klujber, L, Havass, Z
• Format: Journal Article
• Language: English
• Published: Hungary 1991
• Subjects: Child; Female; Humans; Lysosomes - enzymology; Male; Microscopy, Electron; Mucolipidoses - diagnosis; Mucolipidoses - pathology

Biochemical and ultrastructural investigations were made in 2 children suffering from mucolipidosis type III. Among the lysosomal hydrolases the activity of beta-galactosidase and alfa-fucosidase diminished in the homogenate of the peripheral leukocytes in case I. The activity of serum and leukocyte...