Gain Rare Disease Day 2017 With A Commitment To Provide New Insights Into Rare Diseases Equipment Supplied In Europe
1 equipment items found
by:Gain Therapeutics, Inc. based inBethesda, MARYLAND (USA)
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease that is caused by mutations in IDUA, the gene that encodes the alpha-L-iduronidase (IDUA) enzyme. These mutations cause the misfolding and dysfunction of IDUA, which leads to the toxic buildup of large sugars in the bone, cartilage, cornea, heart and central nervous system (CNS). There is currently no cure for these ...