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Article

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.

Journal of pediatric hematology/oncology - 1 Nov 2017

Nashabat Marwan, Maegawa Gustavo, Nissen Peter H, Nexo Ebba, Al-Shamrani Hussain, Al-Owain Mohammed, Alfadhel Majid

Abstract excerpt

Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in...

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Identifiers

PMID: 28538514
DOI: 10.1097/MPH.0000000000000857

Genes

TCN2

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