Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of nonphysiological porphyrins in bone marrow, red blood c...

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Detalles Bibliográficos
Autores principales: Desjardins, Marie-Pier, Naccache, Lamia, Hébert, Audrey, Auger, Isabelle, Teira, Pierre, Pelland-Marcotte, Marie-Claude
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10170564/
https://www.ncbi.nlm.nih.gov/pubmed/36217751
http://dx.doi.org/10.1177/00099228221128661

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10170564/
https://www.ncbi.nlm.nih.gov/pubmed/36217751
http://dx.doi.org/10.1177/00099228221128661

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