Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant

Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease characterized by microangiopathic hemolysis, thrombocytopenia, and renal impairment and is associated with dysregulation of the alternative complement pathway on the microvascular endothelium. Outcomes have improved greatly with phar...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Med (Lausanne)
Päätekijät: Piras, Rossella, Iatropoulos, Paraskevas, Bresin, Elena, Todeschini, Marta, Gastoldi, Sara, Valoti, Elisabetta, Alberti, Marta, Mele, Caterina, Galbusera, Miriam, Cuccarolo, Paola, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2020
Aiheet:
Medicine
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7670076/
https://ncbi.nlm.nih.gov/pubmed/33224962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmed.2020.579418
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