Literature DB >> 980070

Methylmalonic aciduria in the newborn.

V E Shih, J T Coulombe, M Maties, H L Levy.   

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Year:  1976        PMID： 980070     DOI： 10.1056/nejm197612022952319

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  1 in total

1.  Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Authors:  Edward V Quadros; Shao-Chiang Lai; Yasumi Nakayama; Jeffrey M Sequeira; Luciana Hannibal; Sihe Wang; Donald W Jacobsen; Sergey Fedosov; Erica Wright; Renata C Gallagher; Natascia Anastasio; David Watkins; David S Rosenblatt
Journal:  Hum Mutat       Date:  2010-08       Impact factor: 4.878
  1 in total

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