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