Online Mendelian Inheritance in Man (OMIM) (original) (raw)
- Acklin, M., Frater-Schroder, M., Haller, O., Lundin, L. G., Prochazka, M., Skow, L. C.Localization of transcobalamin II (Tcn-2) on chromosome 11: linkage to waved-2 (wa-2) and the hemoglobin alpha-chain locus (Hba). Mouse News Lett. 70: 107-108, 1984.
- Arrabal, M. C., Villegas, A., Mariscal, E., Lentijo, B., Luck, W., Hoffbrand, A. V.Transcobalamin II deficiency: long-term follow-up of two cases. Acta Haemat. 80: 162-166, 1988. [PubMed: 3143215] [Full Text: https://doi.org/10.1159/000205624\]
- Barshop, B. A., Wolff, J., Nyhan, A. L., Yu, A., Prodanos, C., Jones, G., Sweetman, L., Leslie, J., Holm, J., Green, R., Jacobsen, D. W., Cooper, B. A., Rosenblatt, D.Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am. J. Med. Genet. 35: 222-228, 1990. [PubMed: 2309761] [Full Text: https://doi.org/10.1002/ajmg.1320350216\]
- Bibi, H., Gelman-Kohan, Z., Baumgartner, E. R., Rosenblatt, D. S.Transcobalamin II deficiency with methylmalonic aciduria in three sisters. J. Inherit. Metab. Dis. 22: 765-772, 1999. [PubMed: 10518276] [Full Text: https://doi.org/10.1023/a:1005507204491\]
- Burman, J. F., Mollin, D. L., Sourial, N. A., Sladden, R. A.Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient. Brit. J. Haemat. 43: 27-38, 1979. [PubMed: 508619] [Full Text: https://doi.org/10.1111/j.1365-2141.1979.tb03716.x\]
- Chanarin, I., Muir, M., Hughes, A., Hoffbrand, A. V.Evidence for intestinal origin of transcobalamin II during vitamin B12 absorption. Brit. Med. J. 1: 1453-1455, 1978. [PubMed: 647333] [Full Text: https://doi.org/10.1136/bmj.1.6125.1453\]
- Frater-Schroder, M.Genetic patterns of transcobalamin II and the relationships with congenital defects. Molec. Cell. Biochem. 56: 5-31, 1983. [PubMed: 6355816] [Full Text: https://doi.org/10.1007/BF00228765\]
- Haberle, J., Pauli, S., Berning, C., Koch, H. G., Linnebank, M.TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. J. Hum. Genet. 54: 331-334, 2009. [PubMed: 19373259] [Full Text: https://doi.org/10.1038/jhg.2009.34\]
- Hakami, N., Neiman, P. E., Canellos, G. P., Lazerson, J.Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. New Eng. J. Med. 285: 1163-1170, 1971. [PubMed: 5096637] [Full Text: https://doi.org/10.1056/NEJM197111182852103\]
- Hall, C. A.Congenital disorders of vitamin B12 transport and their contributions to concepts. II. Yale J. Biol. Med. 54: 485-495, 1981. [PubMed: 7342493]
- Hitzig, W. H., Dohmann, U., Pluss, H. J., Vischer, D.Hereditary transcobalamin-II deficiency--clinical findings in a new family. J. Pediat. 85: 622-628, 1974. [PubMed: 4138209] [Full Text: https://doi.org/10.1016/s0022-3476(74)80503-2\]
- Hitzig, W. H., Kenny, A. B.The role of vitamin B12 and its transport globulins in the production of antibodies. Clin. Exp. Immun. 20: 105-111, 1975. [PubMed: 128427]
- Hoffbrand, A. V., Tripp, E., Jackson, B. F. A., Luck, W. E., Frater-Schroder, M.Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency. (Letter) New Eng. J. Med. 310: 789-790, 1984. [PubMed: 6700662] [Full Text: https://doi.org/10.1056/nejm198403223101217\]
- Kaikov, Y., Wadsworth, L. D., Hall, C. A., Rogers, P. C. J.Transcobalamin II deficiency: case report and review of the literature. Europ. J. Pediat. 150: 841-843, 1991. [PubMed: 1743216] [Full Text: https://doi.org/10.1007/BF01955004\]
- Li, N., Rosenblatt, D. S., Kamen, B. A., Seetharam, S., Seetharam, B.Identification of two mutant alleles of transcobalamin II in an affected family. Hum. Molec. Genet. 3: 1835-1840, 1994. [PubMed: 7849710] [Full Text: https://doi.org/10.1093/hmg/3.10.1835\]
- Mayes, J. S., Say, B., Marcus, D. L.Prenatal studies in a family with transcobalamin II deficiency. (Letter) Am. J. Hum. Genet. 41: 686-687, 1987. [PubMed: 3661564]
- Meyers, P. A., Carmel, R.Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. Pediatrics 74: 866-871, 1984. [PubMed: 6493881]
- Namour, F., Helfer, A.-C., Quadros, E. V., Alberto, J.-M., Bibi, H. M., Orning, L., Rosenblatt, D. S., Jean-Louis, G.Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. Brit. J. Haemat. 123: 915-920, 2003. [PubMed: 14632784] [Full Text: https://doi.org/10.1046/j.1365-2141.2003.04685.x\]
- Niebrugge, D. J., Benjamin, D. R., Christie, D., Scott, C. R.Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. J. Pediat. 101: 732-735, 1982. [PubMed: 7131148] [Full Text: https://doi.org/10.1016/s0022-3476(82)80304-1\]
- Porck, H. J., Frater-Schroder, M., Frants, R. R., Kierat, L., Eriksson, A. W.Genetic evidence for fetal origin of transcobalamin II in human cord blood. Blood 62: 234-237, 1983. [PubMed: 6860794]
- Rosenblatt, D. S., Hosack, A., Matiaszuk, N.Expression of transcobalamin II by amniocytes. Prenatal Diag. 7: 35-39, 1987. [PubMed: 3823005] [Full Text: https://doi.org/10.1002/pd.1970070107\]
- Sacher, M., Paky, F., Frater-Schroder, M.Vererbter Transcobalamin-II-Mangel: klinische, genetische Untersuchungen und Diagnose in der Fibroblastenkultur. Helv. Paediat. Acta 38: 549-558, 1983. [PubMed: 6668202]
- Scott, C. R., Hakami, N., Teng, C. C., Sagerson, R. N.Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B12 dependent reactions in man. J. Pediat. 81: 1106-1111, 1972. [PubMed: 4643028] [Full Text: https://doi.org/10.1016/s0022-3476(72)80239-7\]
- Seger, R., Wildfeuer, A., Frater-Schroder, M., Linnel, J., Hitzig, W. H.Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. J. Inherit. Metab. Dis. 3: 3-9, 1980. [PubMed: 6774168] [Full Text: https://doi.org/10.1007/BF02312515\]
- Seligman, P. A., Steiner, L. L., Allen, R. H.Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. New Eng. J. Med. 303: 1209-1212, 1980. [PubMed: 7421948] [Full Text: https://doi.org/10.1056/NEJM198011203032105\]
- Tauro, G. P., Danks, D. M., Rowe, P. B., Van der Weyden, M. B., Schwarz, M. A., Collins, V. L., Neal, B. W.Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. New Eng. J. Med. 294: 466-470, 1976. [PubMed: 1060915] [Full Text: https://doi.org/10.1056/NEJM197602262940903\]
- Thomas, P. K., Hoffbrand, A. V., Smith, I. S.Neurological involvement in hereditary transcobalamin II deficiency. J. Neurol. Neurosurg. Psychiat. 45: 74-77, 1982. [PubMed: 7062075] [Full Text: https://doi.org/10.1136/jnnp.45.1.74\]
- Vance, G. H., Moncino, M., Heerema, N. A.Cytogenetic findings of a child with transcobalamin II deficiency. Am. J. Med. Genet. 46: 615-619, 1993. [PubMed: 8362900] [Full Text: https://doi.org/10.1002/ajmg.1320460602\]
- Zeitlin, H. C., Sheppard, K., Baum, J. D., Bolton, F. G., Hall, C. A.Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. Blood 66: 1022-1027, 1985. [PubMed: 4052627]