Should transcobalamin deficiency be treated aggressively?
Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S J Inherit Metab Dis 2010(3): 223-9
[PubMed abstract].
2008
Transcobalamin (TC) deficiency-Potential cause of bone marrow failure in childhood.
Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA J Inherit Metab Dis 2008():
[PubMed abstract].
2003
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.
Namour F, Helfer AC, Quadros EV, Alberto JM, Bibi HM, Orning L, Rosenblatt DS, Jean-Louis G Br J Haematol 2003(5): 915-20
[PubMed abstract].
1999
Transcobalamin II deficiency with methylmalonic aciduria in three sisters.
Bibi H, Gelman-Kohan Z, Baumgartner ER, Rosenblatt DS J Inherit Metab Dis 1999(7): 765-72
[PubMed abstract].
1994
Identification of two mutant alleles of transcobalamin II in an affected family.
Li N, Rosenblatt DS, Kamen BA, Seetharam S, Seetharam B Hum Mol Genet 1994(10): 1835-40
[PubMed abstract].
Nonsense mutations in human transcobalamin II deficiency.
Li N, Rosenblatt DS, Seetharam B Biochem Biophys Res Commun 1994(3): 1111-8
[PubMed abstract].
