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Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis

We describe the clinical course and response to treatment of atypical haemolytic uraemic syndrome (aHUS) in two sisters presenting to our hospital 6 years apart with a novel complement factor H mutation that has not been described previously in literature and demonstrates the genetic complexity of t...

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Detalles Bibliográficos
Autores principales:	Collett, James, Mallawaarachchi, Amali, Fischer, Eddy, Komala, Muralikrishna Gangadharan, Sud, Kamal, Bose, Bhadran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2017
Materias:	Rare Diseases
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518413/ https://www.ncbi.nlm.nih.gov/pubmed/28744369 http://dx.doi.org/10.1093/ckj/sfw132

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