Transcobalamin deficiency — a rare genetic defect in transportation of cobalamin; case report
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00277-024-05878-7.pdf
Reference18 articles.
1. Ratschmann R, Minkov M, Kis A et al (2009) Transcobalamin II deficiency at birth. Mol Genet Metab 98(3):285–288. https://doi.org/10.1016/j.ymgme.2009.06.003
2. Green R, Miller JW (2022) Vitamin B12 deficiency. Vitam Horm 119:405–439. https://doi.org/10.1016/bs.vh.2022.02.003
3. Arwert F, Porck HJ, Fràter-Schröder M et al (1986) Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Hum Genet 74(4):378–381. https://doi.org/10.1007/BF00280489
4. Li N, Seetharam S, Seetharam B (1995) Genomic structure of human transcobalamin II: comparison to human intrinsic factor and transcobalamin I. Biochem Biophys Res Commun 208(2):756–764. https://doi.org/10.1006/bbrc.1995.1402
5. Quadros EV, Sequeira JM (2013) Cellular uptake of cobalamin: transcobalamin and the TCblR/CD320 receptor. Biochimie 95(5):1008–1018. https://doi.org/10.1016/j.biochi.2013.02.004Epub 2013 Feb 14. PMID: 23415653; PMCID: PMC3902480
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