Article
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology.
Journal of inherited metabolic disease - 1 Mar 2017
Osborn Mark J, Webber Beau R, McElmurry Ronald T, Rudser Kyle D, DeFeo Anthony P, Muradian Michael, Petryk Anna, Hallgrimsson Benedikt, Blazar Bruce R, Tolar Jakub, Braunlin Elizabeth A
Abstract excerpt
Mucopolysaccharidosis type I (MPS IH) is a lysosomal storage disease (LSD) caused by inactivating mutations to the alpha-L-iduronidase (IDUA) gene. Treatment focuses on IDUA enzyme replacement and currently employed methods can be non-uniform in their efficacy particularly for the cardiac and craniofacial pathology. Therefore, we undertook efforts to better define the pathological cascade accounting for treatment...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
