Sassine S, Remy A, Demaret T, Proulx F, Autmizguine J, Kakkar F
Children (Basel). 2024; 11(8).
PMID: 39201925
PMC: 11352300.
DOI: 10.3390/children11080990.
Iqbal N, Meghani M, Khalid W, Ansari A, Ansari M, Ansari S
Ann Hematol. 2024; 103(8):3243-3246.
PMID: 38976007
DOI: 10.1007/s00277-024-05878-7.
Walsh D, Bernard D, Fiddler J, Pangilinan F, Esposito M, Harold D
PNAS Nexus. 2024; 3(4):pgae116.
PMID: 38560530
PMC: 10978065.
DOI: 10.1093/pnasnexus/pgae116.
Luo J, Guo H, Feng L, Yang L, Chen X, Du T
Front Genet. 2022; 13:951007.
PMID: 36035190
PMC: 9411981.
DOI: 10.3389/fgene.2022.951007.
Martino F, Magenta A, Troccoli M, Martino E, Torromeo C, Putotto C
Ital J Pediatr. 2021; 47(1):54.
PMID: 33685478
PMC: 7941906.
DOI: 10.1186/s13052-021-01007-6.
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.
Zhan S, Cheng F, He H, Hu S, Feng X
BMC Pediatr. 2020; 20(1):460.
PMID: 33023511
PMC: 7537950.
DOI: 10.1186/s12887-020-02357-6.
Transcobalamin deficiency: vitamin B deficiency with normal serum B levels.
Khera S, Pramanik S, Patnaik S
BMJ Case Rep. 2019; 12(10).
PMID: 31666257
PMC: 6827761.
DOI: 10.1136/bcr-2019-232319.
Functional and phylogenetic characterization of noncanonical vitamin B-binding proteins in zebrafish suggests involvement in cobalamin transport.
Benoit C, Stanton A, Tartanian A, Motzer A, McGaughey D, Bond S
J Biol Chem. 2018; 293(45):17606-17621.
PMID: 30237171
PMC: 6231144.
DOI: 10.1074/jbc.RA118.005323.
Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.
Bernard D, Pangilinan F, Cheng J, Molloy A, Brody L
Hum Mol Genet. 2018; 27(20):3627-3640.
PMID: 30124850
PMC: 6168973.
DOI: 10.1093/hmg/ddy267.
Transcobalamin II Deficiency in Four Cases with Novel Mutations.
Unal S, Rupar T, Yetgin S, Yarali N, Dursun A, Gursel T
Turk J Haematol. 2015; 32(4):317-22.
PMID: 25914105
PMC: 4805327.
DOI: 10.4274/tjh.2014.0154.
Cellular uptake of cobalamin: transcobalamin and the TCblR/CD320 receptor.
Quadros E, Sequeira J
Biochimie. 2013; 95(5):1008-18.
PMID: 23415653
PMC: 3902480.
DOI: 10.1016/j.biochi.2013.02.004.
Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
Pawlik P, Mostowska A, Lianeri M, Sajdak S, Kedzia H, Jagodzinski P
Mol Biol Rep. 2011; 39(5):5553-60.
PMID: 22183302
DOI: 10.1007/s11033-011-1359-0.
Comparison between Serum Holotranscobalamin and Total Vitamin B12 as Indicators of Vitamin B12 Status.
Al Aisari F, Al-Hashmi H, Mula-Abed W
Oman Med J. 2011; 25(1):9-12.
PMID: 22125690
PMC: 3215392.
DOI: 10.5001/omj.2010.3.
Should transcobalamin deficiency be treated aggressively?.
Schiff M, de Baulny H, Bard G, Barlogis V, Hamel C, Moat S
J Inherit Metab Dis. 2010; 33(3):223-9.
PMID: 20352340
DOI: 10.1007/s10545-010-9074-x.
Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.
Prasad C, Rosenblatt D, Corley K, Cairney A, Rupar C
J Inherit Metab Dis. 2008; 31 Suppl 2:S287-92.
PMID: 18956254
DOI: 10.1007/s10545-008-0864-3.
Anemia in the newborn.
Lokeshwar M, Singhal T, Shah N
Indian J Pediatr. 2004; 70(11):893-902.
PMID: 14703230
DOI: 10.1007/BF02730596.
Transcobalamin II deficiency with methylmalonic aciduria in three sisters.
Bibi H, Gelman-Kohan Z, Baumgartner E, Rosenblatt D
J Inherit Metab Dis. 1999; 22(7):765-72.
PMID: 10518276
DOI: 10.1023/a:1005507204491.
Megalin-mediated endocytosis of transcobalamin-vitamin-B12 complexes suggests a role of the receptor in vitamin-B12 homeostasis.
Moestrup S, Birn H, Fischer P, Petersen C, Verroust P, Sim R
Proc Natl Acad Sci U S A. 1996; 93(16):8612-7.
PMID: 8710919
PMC: 38721.
DOI: 10.1073/pnas.93.16.8612.
Expression of transcobalamin II mRNA in human tissues and cultured fibroblasts from normal and transcobalamin II-deficient patients.
Li N, Seetharam S, Rosenblatt D, Seetharam B
Biochem J. 1994; 301 ( Pt 2):585-90.
PMID: 7913804
PMC: 1137121.
DOI: 10.1042/bj3010585.
Long-term follow up of patients with transcobalamin II deficiency.
Monagle P, Tauro G
Arch Dis Child. 1995; 72(3):237-8.
PMID: 7741573
PMC: 1511073.
DOI: 10.1136/adc.72.3.237.