- Home
- Equipment
- usa west virginia
- lysosomal storage disease
Refine by
Lysosomal Storage Disease Equipment & Supplies In Usa West Virginia
3 equipment items found
by:Gain Therapeutics, Inc. based inBethesda, MARYLAND (USA)
Gaucher disease is the most common lysosomal storage disease and is caused by mutations in GBA, the gene that encodes the beta-glucocerebrosidase (GCase) enzyme. These mutations result in the misfolding and subsequent dysfunction of GCase, which leads to the toxic buildup of fat in a variety of organs and tissues such as the ...
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 ...
by:Gain Therapeutics, Inc. based inBethesda, MARYLAND (USA)
Protein misfolding is the root of many diseases, including lysosomal storage disorders and neurodegenerative ...