Ontology highlight
ABSTRACT:
SUBMITTER: Hinderer C
PROVIDER: S-EPMC4205647 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Hinderer Christian C Bell Peter P Gurda Brittney L BL Wang Qiang Q Louboutin Jean-Pierre JP Zhu Yanqing Y Bagel Jessica J O'Donnell Patricia P Sikora Tracey T Ruane Therese T Wang Ping P Haskins Mark E ME Wilson James M JM
Proceedings of the National Academy of Sciences of the United States of America 20140929 41
Patients with mucopolysaccharidosis type I (MPS I), a genetic deficiency of the lysosomal enzyme α-l-iduronidase (IDUA), exhibit accumulation of glycosaminoglycans in tissues, with resulting diverse clinical manifestations including neurological, ocular, skeletal, and cardiac disease. MPS I is currently treated with hematopoietic stem cell transplantation or weekly enzyme infusions, but these therapies have significant drawbacks for patient safety and quality of life and do not effectively addre ...[more]