Ontology highlight
ABSTRACT:
SUBMITTER: Sillence D
PROVIDER: S-EPMC3509847 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Sillence D D Waters K K Donaldson S S Shaw P J PJ Ellaway C C
JIMD reports 20110906
Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in pat ...[more]