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Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Bu F, Borsa N, Gianluigi A, Smith RJ. Bu F, et al. Clin Dev Immunol. 2012;2012:370426. doi: 10.1155/2012/370426. Epub 2012 Nov 8. Clin Dev Immunol. 2012. PMID: 23251215 Free PMC article. Review.
This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients. However, even with this bright outlook, major challenges remain to understand the complexity of aHUS a …
This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and …
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M. Mele C, et al. Clin J Am Soc Nephrol. 2015 Jun 5;10(6):1011-9. doi: 10.2215/CJN.08520814. Epub 2015 Apr 8. Clin J Am Soc Nephrol. 2015. PMID: 25854283 Free PMC article.
Sequencing of cDNA from affected individuals revealed aberrant forms of DGKE mRNA predicted to cause profound abnormalities in the protein catalytic site. ...
Sequencing of cDNA from affected individuals revealed aberrant forms of DGKE mRNA predicted to cause profound abnormalities in the pr …