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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Lemaire M, et al. Among authors: fakhouri f. Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542698 Free PMC article.
C3 glomerulopathy: a new classification.
Fakhouri F, Frémeaux-Bacchi V, Noël LH, Cook HT, Pickering MC. Fakhouri F, et al. Nat Rev Nephrol. 2010 Aug;6(8):494-9. doi: 10.1038/nrneph.2010.85. Epub 2010 Jul 6. Nat Rev Nephrol. 2010. PMID: 20606628 Review.
Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation.
Zuber J, Le Quintrec M, Krid S, Bertoye C, Gueutin V, Lahoche A, Heyne N, Ardissino G, Chatelet V, Noël LH, Hourmant M, Niaudet P, Frémeaux-Bacchi V, Rondeau E, Legendre C, Loirat C; French Study Group for Atypical HUS. Zuber J, et al. Am J Transplant. 2012 Dec;12(12):3337-54. doi: 10.1111/j.1600-6143.2012.04252.x. Epub 2012 Sep 7. Am J Transplant. 2012. PMID: 22958221 Free article.
233 results