Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B(12)

Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of holo-TC, identified a hom...

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Main Authors: Quadros, Edward V., Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M., Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W., Fedosov, Sergey, Wright, Erica, Gallagher, Renata C., Anastasio, Natascia, Watkins, David, Rosenblatt, David S.
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2909035/
https://ncbi.nlm.nih.gov/pubmed/20524213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21297
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