Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.

Piotrowska, Ewa

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. [electronic resource] - Acta paediatrica (Oslo, Norway : 1992) Apr 2009 - 743-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1651-2227

10.1111/j.1651-2227.2008.01153.x doi


Adolescent
Biomarkers--urine
Child
Child, Preschool
Enzyme Activation
Female
Fibroblasts--metabolism
Glycosaminoglycans--biosynthesis
Humans
Leukocytes--metabolism
Male
Mucopolysaccharidoses--enzymology
Mutation
Phenotype
Prognosis