Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

A 78-year-old man with a history of neonatal anemia and jaundice and life-long photosensitivity was found to have harderoporphyria, as evidenced by increased porphyrins in urine, plasma, erythrocytes and feces including large amounts of harderoporphyrin in feces and erythrocytes. Two previously unde...

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Detalles Bibliográficos
Autores principales: Moghe, A., Ramanujam, V.M.S., Phillips, J.D., Desnick, R.J., Anderson, K.E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383327/
https://www.ncbi.nlm.nih.gov/pubmed/30828546
http://dx.doi.org/10.1016/j.ymgmr.2019.100457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383327/
https://www.ncbi.nlm.nih.gov/pubmed/30828546
http://dx.doi.org/10.1016/j.ymgmr.2019.100457

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