Associated Papers
Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency.
Luo J et al.
Frontiers in Genetics, 2022
Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.
Martino F et al.
Italian Journal of Pediatrics, 2021
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.
Zhan S et al.
Bmc Pediatrics, 2020
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ et al.
Journal of Inherited Metabolic Disease, 2014
Should transcobalamin deficiency be treated aggressively?
Schiff M et al.
Journal of Inherited Metabolic Disease, 2010
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