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References

These sources were used to develop the Genetics Home Reference gene summary on the MMADHC gene.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. PubMed citation
Entrez Gene
Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5. PubMed citation
OMIM: MMADHC GENE
Plesa M, Kim J, Paquette SG, Gagnon H, Ng-Thow-Hing C, Gibbs BF, Hancock MA, Rosenblatt DS, Coulton JW. Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism. Mol Genet Metab. 2011 Feb;102(2):139-48. doi: 10.1016/j.ymgme.2010.10.011. Epub 2010 Oct 21. PubMed citation

Reviewed: July 2011

Published: May 13, 2013