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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...
Autores principales: | Tridimas, Andreas, Gillett, Godfrey T., Pollard, Sally, Sadasivam, Nandini, Williams, Adrian, Mellor, Kirsty, Catchpole, Anthony, Stepien, Karolina M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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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 |
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