Lysosomal Storage Disorder Services
3 services found
by:Azafaros based inNaarden, NETHERLANDS
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. ...
by:Azafaros based inNaarden, NETHERLANDS
Azafaros B.V. is pioneering the development of innovative oral small molecule compounds addressing the pathological effects of metabolite accumulation in rare metabolic disorders. Their lead compound, nizubaglustat, leverages unique dual-mode action, making it a promising candidate for modifying diseases irrespective of patient genotypes. Notably effective against conditions such ...
Manufactured by:CENTOGENE N.V. based inRostock, GERMANY
Genetic testing is a type of medical test that identifies changes in genes, inherited from our parents, which we then typically pass on to our children. “Mistakes” in our genes (called “pathogenic variants”) can manifest the disease, and genetic tests may be used to confirm the disease ...