Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Nat Genet 44:1152-5 (2012)
DOI:10.1038/ng.2386