PKD is a genetic disorder marked by kidney cysts and progressive damage. Discover the science, treatment guidelines, and ...

They had no idea that their son, Talon, would be diagnosed with autosomal recessive osteopetrosis at ... but apparently osteopetrosis disease can cause him to have excess spinal fluid.

Niemann-Pick Disease Market Insights: Key Trends and Developments Across Different Types of Niemann-Pick Disease | DelveInsight According to DelveInsight’s analysis, the market for Niemann-Pick ...

Deep Apple Therapeutics Inc. could bring in as much as $812 million in a new collaboration and license deal with Novo Nordisk A/S. The total includes an unspecified up-front payment, research costs ...

Gene therapies challenge ERT dominance in Gaucher’s disease as new data reveals strategic insights, key players, and future ...

BackgroundIVD is a key enzyme in leucine catabolism, catalyzing the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA.

It's inherited in an autosomal recessive pattern, meaning a person must inherit two mutant copies of the gene — one from each parent — to develop the condition. Related: CRISPR 'will provide cures for ...

DelveInsight's Friedreich's Ataxia Market Insights report includes a comprehensive understanding of current treatment ...