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Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy

Recessive mutations in diacylglycerol kinase epsilon (DGKE) display genetic pleiotropy, with pathological features reported as either thrombotic microangiopathy or membranoproliferative glomerulonephritis (MPGN), and clinical features of atypical hemolytic uremic syndrome (aHUS), nephrotic syndrome...

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Detalles Bibliográficos
Autores principales: Brocklebank, Vicky, Kumar, Gurinder, Howie, Alexander J., Chandar, Jayanthi, Milford, David V., Craze, Janet, Evans, Jonathan, Finlay, Eric, Freundlich, Michael, Gale, Daniel P., Inward, Carol, Mraz, Martin, Jones, Caroline, Wong, William, Marks, Stephen D., Connolly, John, Corner, Bronte M., Smith-Jackson, Kate, Walsh, Patrick R., Marchbank, Kevin J., Harris, Claire L., Wilson, Valerie, Wong, Edwin K.S., Malina, Michal, Johnson, Sally, Sheerin, Neil S., Kavanagh, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242908/
https://www.ncbi.nlm.nih.gov/pubmed/32386968
http://dx.doi.org/10.1016/j.kint.2020.01.045