1. Nielsen MJ, Rasmussen MR, Andersen CB, et al. Vitamin B12 transport from food to the body's cells—a sophisticated, multistep pathway. Nat Rev Gastroenterol Hepatol. 2022;19(5):301-317.
[2]
2. Watkins D, Rosenblatt DS. Update and lessons from the cblC defect in methylmalonic acidemia and homocystinuria. Cold Spring Harb Perspect Med. 2023;13(2):a041256.
[3]
3. Quadros EV, Lai SC, Nakayama Y, et al. Mutations in TCb2 (TCN2) gene causing hereditary transcobalamin II deficiency. Blood. 2020;135(12):917-927.
[4]
4. Bibi H, Vogel S,篮子 M, et al. Clinical and molecular characterization of transcobalamin II deficiency. J Inherit Metab Dis. 2021;44(3):601-612.
[5]
5. Oussalah A, Jorge C, Coelho JP, et al. Exome sequencing identifies novel TCb2 (TCN2) mutations in patients with hereditary transcobalamin II deficiency. Mol Genet Metab. 2022;127(4):345-354.
[6]
6. Higuchi S, Hama T, Kawamura A, et al. Genotype-phenotype correlation in transcobalamin II deficiency. J Hum Genet. 2023;68(5):321-329.
[7]
7. World Health Organization. Nutritional anaemias: tools for effective prevention and control. Geneva: WHO; 2023.
[8]
8. Green R, Allen LH, Bjørke-Monsen AL, et al. Vitamin B12 deficiency. Nat Rev Dis Primers. 2021;3:17040.
[9]
9. Hannibal L, Blom HJ. Homocysteine and folate in transcobalamin deficiency. Metabolism. 2022;134:155-168.
[10]
10. Seetharam B, Bose S, Li N. Cellular import of cobalamin (vitamin B12). J Nutr. 2021;151(Suppl 1):34S-45S.