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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890299/
https://www.ncbi.nlm.nih.gov/pubmed/33659185
http://dx.doi.org/10.1016/j.ymgmr.2021.100722

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890299/
https://www.ncbi.nlm.nih.gov/pubmed/33659185
http://dx.doi.org/10.1016/j.ymgmr.2021.100722

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