Article
Mucopolysaccharidosis type VII: A powerful experimental system and therapeutic challenge.
Pediatric endocrinology reviews : PER - 1 Sept 2014
Sands Mark S
Abstract excerpt
Mucopolysaccharidosis type VII (MPSVII) is an inborn error of metabolism caused by a deficiency in the lysosomal enzyme B-glucuronidase (GUSB). As such, MPSVII is one of a larger class of inherited diseases referred to as lysosomal storage diseases (LSD). (1) The absence of GUSB activity leads to the progressive accumulation of undegraded glycosaminoglycans (GAGs) in many tissues of the body....
Topics
- Animals
- Bone Marrow Transplantation
- Disease Models, Animal
- Enzyme Replacement Therapy
- Genetic Therapy
- Hematopoietic Stem Cell Transplantation
- Humans
- Mucopolysaccharidosis VII
- Phenotype