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Use of Retinoids in Congenital Erythropoietic Porphyria
Zebrafish model of CEP develops bone phenotype resembling human disease
Invention Summary:
Congenital erythropoietic porphyria (CEP) is 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,...
Published: 8/18/2022
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Inventor(s): Bishr Omary
Keywords(s): Small molecules
Category(s): Technology Classifications > Therapeutics, Technology Classifications > Healthcare & Life Sciences
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