|
Use of Retinoids in Congenital Erythropoietic Porphyria
Invention Summary:
Congenital erythropoietic porphyria (CEP) is an unaddressed orphan disease caused by a rare genetic disorder leading to accumulation of uro/coproporphyrin-I (uro-I) in tissues due to inhibition of the enzyme uroporphyrinogen-III synthase. Clinical manifestations of CEP include bone fragility, severe photosensitivity, and photo-mutilation....
Published: 8/28/2024
|
Inventor(s): Bishr Omary, Jordan Shavit
Keywords(s): Small molecules
Category(s): Technology Classifications > Therapeutics, Technology Classifications > Healthcare & Life Sciences
|
