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Porphyria, Erythropoietic
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Organizations
Organization Involved with Phase 3 Indications (4)
Organization Involved with Phase 2 Indications (10)
- Gilead Sciences
- Zymenex
- National Institutes of Health (NIH)
- National Center for Research Resources (NCRR)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Wake Forest University
- Umea University
- University of Texas, Galveston
- University of Paris
- Association pour l'Etude des Fonctions Digestives
Organization Involved with Phase 1 Indications (5)