Transcobalamin II deficiency: Case report and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/BF01955004.pdf
Reference22 articles.
1. Arrabal MC, Villegas A, Mariscal E, Lentijo B, Luck B, Hoffbrand AV (1988) Transcobalamin II deficiency. Acta Haematol 80:162–166
2. Arwert F, Porck HJ, Frater-Schroder M, Brahe C, Geurts van Kessel A, Westerveld A, Meera Khan P, Zang K, Frants RR, Korbeek HT, Eriksson AW (1986) Assignment of human transcobalamin II (TCII) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Hum Genet 73:378–381
3. Burman JF, Mollin DL, Sourial NA, Sladden RA (1979) Inherited lack of transcobalamin II in the serum and megaloblastic anemia; a further patient. Br J Haematol 43:27–38
4. Carmel R (1986) Transcobalamin II deficiency and oral cobalamin therapy. Blood 67,5:1522
5. Carmel R, Rovindranath Y (1984) Congenital transcobalamin II deficiency presenting atypically with a low serum cobalamin level. Studies demonstrating the coexistence of a circulating transcobalamin I (R binder) complex Blood 63,3:598–605
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4. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations;Journal of Pediatric Hematology/Oncology;2017-11
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