Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. These phototoxic metabolites predominantly produced by...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Blouin, Jean-Marc, Ged, Cécile, Bernardo-Seisdedos, Ganeko, Cabantous, Txomin, Pinson, Benoît, Poli, Antoine, Puy, Hervé, Millet, Oscar, Gouya, Laurent, Morice-Picard, Fanny, Richard, Emmanuel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7890299/
https://ncbi.nlm.nih.gov/pubmed/33659185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100722
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