Ontology highlight
ABSTRACT:
SUBMITTER: Alvarez VJ
PROVIDER: S-EPMC7795692 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Álvarez Víctor J VJ Bravo Susana B SB Chantada-Vazquez Maria Pilar MP Colón Cristóbal C De Castro María J MJ Morales Montserrat M Vitoria Isidro I Tomatsu Shunji S Otero-Espinar Francisco J FJ Couce María L ML
International journal of molecular sciences 20201228 1
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the <i>N</i>-acetylgalactosamine-6-sulfatase (<i>GALNS</i>) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage and its extracellular matrix, leading to a growth imbalance. Enzyme replacement therapy (ERT) with recombinant human GALNS has yielded positive results in activity of daily living and endurance tests. However, no data have demonstrat ...[more]