Ontology highlight
ABSTRACT:
SUBMITTER: Turbeville S
PROVIDER: S-EPMC3367500 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Turbeville Sean S Nicely Helen H Rizzo J Douglas JD Pedersen Tanya L TL Orchard Paul J PJ Horwitz Mitchell E ME Horwitz Edwin M EM Veys Paul P Bonfim Carmem C Al-Seraihy Amal A
Molecular genetics and metabolism 20101025 2
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) is one of approximately 50 known lysosomal storage disorders. MPS VI is characterized by an absence or deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) resulting in accumulation of dermatan sulfate. Prior to the availability of enzyme replacement therapy (ERT), the clinical management of MPS VI was limited to supportive care and allogeneic hematopoietic stem cell transplantation (HSCT); however, due to the rarity of this ...[more]