Associated Papers
Pancytopenia due to Transcobalamin II Deficiency (TCN2D).
Kumari V et al.
Indian Journal of Pediatrics, 2025
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
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
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.
Nashabat M et al.
Journal of Pediatric Hematology/oncology, 2017
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M et al.
Molecular Genetics and Metabolism, 2016
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