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Journal Abstract Search

294 related items for PubMed ID: 25135762

  • 1. Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
    Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S.
    Clin J Am Soc Nephrol; 2014 Sep 05; 9(9):1611-9. PubMed ID: 25135762
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  • 2. Genetics of atypical hemolytic uremic syndrome (aHUS).
    Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A.
    Semin Thromb Hemost; 2014 Jun 05; 40(4):422-30. PubMed ID: 24799305
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  • 3. A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report.
    Alabdulqader M, Alfakeeh K.
    BMC Nephrol; 2021 Apr 20; 22(1):140. PubMed ID: 33879077
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  • 4. 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.
    Clin J Am Soc Nephrol; 2015 Jun 05; 10(6):1011-9. PubMed ID: 25854283
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  • 5. Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation.
    Fakhouri F, Fila M, Provôt F, Delmas Y, Barbet C, Châtelet V, Rafat C, Cailliez M, Hogan J, Servais A, Karras A, Makdassi R, Louillet F, Coindre JP, Rondeau E, Loirat C, Frémeaux-Bacchi V.
    Clin J Am Soc Nephrol; 2017 Jan 06; 12(1):50-59. PubMed ID: 27799617
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  • 8. Atypical hemolytic uremic syndrome.
    Loirat C, Frémeaux-Bacchi V.
    Orphanet J Rare Dis; 2011 Sep 08; 6():60. PubMed ID: 21902819
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  • 9. Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
    Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM.
    N Engl J Med; 2009 Jul 23; 361(4):345-57. PubMed ID: 19625716
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  • 10. [Pathophysiology of atypical hemolytic uremic syndrome. Ten years of progress, from laboratory to patient].
    Frémeaux-Bacchi V.
    Biol Aujourdhui; 2013 Jul 23; 207(4):231-40. PubMed ID: 24594571
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  • 12. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
    Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K, Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B, Jungraithmayr T, Frémeaux-Bacchi V, Bergmann C, Bereczki C, Miklaszewska M, Csuka D, Prohászka Z, Killen P, Gipson P, Sampson MG, Lemaire M, Schaefer F.
    J Am Soc Nephrol; 2017 Oct 23; 28(10):3066-3075. PubMed ID: 28526779
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  • 13. A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report.
    Wei X, Li J, Zhan X, Tu L, Huang H, Wang Y.
    J Med Case Rep; 2022 Mar 04; 16(1):101. PubMed ID: 35241161
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  • 15. Clinically Different Presentations of Family Members With the Same Homozygote Diacylglycerol Kinase Epsilon Mutation: Case Report.
    Çelikkaya E, Güngör T, Karakaya D, Kargın Çakıcı E, Yazılıtaş F, Özaltın F, Bülbül M.
    Exp Clin Transplant; 2022 May 04; 20(Suppl 3):45-48. PubMed ID: 35570599
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  • 16. [Atypical hemolytic-uremic syndrome related to abnormalities within the complement system].
    Frémeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C.
    Rev Med Interne; 2011 Apr 04; 32(4):232-40. PubMed ID: 21376430
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  • 18. Pediatric Atypical Hemolytic Uremic Syndrome Advances.
    Raina R, Vijayvargiya N, Khooblall A, Melachuri M, Deshpande S, Sharma D, Mathur K, Arora M, Sethi SK, Sandhu S.
    Cells; 2021 Dec 18; 10(12):. PubMed ID: 34944087
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  • 20. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
    Pollack S, Eisenstein I, Mory A, Paperna T, Ofir A, Baris-Feldman H, Weiss K, Veszeli N, Csuka D, Shemer R, Glaser F, Prohászka Z, Magen D.
    Front Immunol; 2021 Dec 18; 12():608604. PubMed ID: 34248927
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