Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/article/10.1007/s00467-018-3941-3/fulltext.html
Reference15 articles.
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2. Martinelli D, Deodato F, Dionisi-Vici C (2011) Cobalamin C defect: natural history, pathophysiology and treatment. J Inherit Metab Dis 34:127–135
3. Carrilo-Carrasco N, Chandler RJ, Venditti CP (2012) Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis 35:91–102
4. Adrovic A, Canpolat N, Caliskan S, Sever L, Kıykım E, Agbas A, Baumgartner MR (2016) Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC. Pediatr Int 58:763–765
5. Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M (2017) Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity. Pediatr Nephrol 32:733–741
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