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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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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 |
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