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Journal Abstract Search
374 related items for PubMed ID: 24210589
1. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. Cornec-Le Gall E, Delmas Y, De Parscau L, Doucet L, Ogier H, Benoist JF, Fremeaux-Bacchi V, Le Meur Y. Am J Kidney Dis; 2014 Jan; 63(1):119-23. PubMed ID: 24210589 [Abstract] [Full Text] [Related]
2. Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab. Barlas UK, Kıhtır HS, Goknar N, Ersoy M, Akcay N, Sevketoglu E. Pediatr Nephrol; 2018 Jun; 33(6):1093-1096. PubMed ID: 29558000 [Abstract] [Full Text] [Related]
3. Insights from the use in clinical practice of eculizumab in adult patients with atypical hemolytic uremic syndrome affecting the native kidneys: an analysis of 19 cases. Fakhouri F, Delmas Y, Provot F, Barbet C, Karras A, Makdassi R, Courivaud C, Rifard K, Servais A, Allard C, Besson V, Cousin M, Châtelet V, Goujon JM, Coindre JP, Laurent G, Loirat C, Frémeaux-Bacchi V. Am J Kidney Dis; 2014 Jan; 63(1):40-8. PubMed ID: 24021908 [Abstract] [Full Text] [Related]
4. [Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria]. Ueland PM, Schneede J. Tidsskr Nor Laegeforen; 2008 Mar 13; 128(6):690-3. PubMed ID: 18337849 [Abstract] [Full Text] [Related]
5. Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. Chen M, Zhuang J, Yang J, Wang D, Yang Q. Medicine (Baltimore); 2017 Oct 13; 96(43):e8284. PubMed ID: 29068997 [Abstract] [Full Text] [Related]
6. [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. Urbón Artero A, Aldana Gómez J, Reig Del Moral C, Nieto Conde C, Merinero Cortés B. An Esp Pediatr; 2002 Apr 13; 56(4):337-41. PubMed ID: 11927078 [Abstract] [Full Text] [Related]
7. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E. J Inherit Metab Dis; 2007 Oct 13; 30(5):811. PubMed ID: 17768669 [Abstract] [Full Text] [Related]
8. Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult. Philipponnet C, Desenclos J, Brailova M, Aniort J, Kemeny JL, Deville C, Fremeaux-Bacchi V, Souweine B, Heng AE. BMC Nephrol; 2020 Mar 12; 21(1):96. PubMed ID: 32164588 [Abstract] [Full Text] [Related]
9. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR. Mol Genet Metab; 2013 Dec 12; 110(4):472-6. PubMed ID: 24095221 [Abstract] [Full Text] [Related]
10. Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls. Vaisbich MH, Braga A, Gabrielle M, Bueno C, Piazzon F, Kok F. Pediatr Nephrol; 2017 Jun 12; 32(6):1089-1092. PubMed ID: 28210839 [Abstract] [Full Text] [Related]
11. First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. Liu Y, Wang Q, Li X, Ding Y, Song J, Yang Y. Brain Dev; 2015 Mar 12; 37(3):286-91. PubMed ID: 24974159 [Abstract] [Full Text] [Related]
14. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. Thauvin-Robinet C, Roze E, Couvreur G, Horellou MH, Sedel F, Grabli D, Bruneteau G, Tonneti C, Masurel-Paulet A, Perennou D, Moreau T, Giroud M, de Baulny HO, Giraudier S, Faivre L. J Neurol Neurosurg Psychiatry; 2008 Jun 12; 79(6):725-8. PubMed ID: 18245139 [Abstract] [Full Text] [Related]
15. The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. Wood WD, Elmaghrabi A, Gotway G, Wolf MTF. Pediatr Nephrol; 2022 Jun 12; 37(6):1415-1418. PubMed ID: 34854955 [Abstract] [Full Text] [Related]
17. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. Kalantari S, Brezzi B, Bracciamà V, Barreca A, Nozza P, Vaisitti T, Amoroso A, Deaglio S, Manganaro M, Porta F, Spada M. Orphanet J Rare Dis; 2022 Feb 02; 17(1):33. PubMed ID: 35109910 [Abstract] [Full Text] [Related]
18. Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation. Kılıç M, Özgül RK, Dursun A, Tokatlı A, Kalkanoğlu-Sivri HS, Anlar B, Fowler B, Coşkun T. Turk J Pediatr; 2013 Feb 02; 55(6):633-6. PubMed ID: 24577983 [Abstract] [Full Text] [Related]