Disorders of Cobalamin Metabolism
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-67727-5_28
Reference46 articles.
1. Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B-12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet. 1999;21(3):309–13.
2. Banerjee R, Gherasim C, Padovani D. The tinker, tailor, soldier in intracellular B12 trafficking. Curr Opin Chem Biol. 2009;13(4):484–91.
3. Baumgartner MR, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.
4. Beck BB, van Spronsen F, Diepstra A, Berger RM, Komhoff M. Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity. Pediatr Nephrol. 2017;32(5):733–41.
5. Bor MV, Cetin M, Aytac S, Altay C, Nexo E. Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. Clin Chem. 2005;51(11):2151–5.
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