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Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia

Acaeruloplasminemia is a rare autosomal recessive condition caused by inactivating mutations of the CP gene encoding caeruloplasmin (ferroxidase). Caeruloplasmin is a copper‐containing plasma ferroxidase enzyme with a key role in facilitating cellular iron efflux. We describe a case of a patient wit...

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Detalles Bibliográficos
Autores principales: Tridimas, Andreas, Gillett, Godfrey T., Pollard, Sally, Sadasivam, Nandini, Williams, Adrian, Mellor, Kirsty, Catchpole, Anthony, Stepien, Karolina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802632/
https://www.ncbi.nlm.nih.gov/pubmed/33473336
http://dx.doi.org/10.1002/jmd2.12176