Mol Genet Metab. 2016 Jan 23. pii: S1096-7192(16)30007-5. doi: 10.1016/j.ymgme.2016.01.008. [Epub ahead of print]
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M1, Tian X2, Chu J1, Wang G2, Feng Y2, Chen S2, Fenter R2, Zhang VW3, Wang J3, Watkins D1, Wong LJ3, Rosenblatt DS4.
Copyright © 2016. Published by Elsevier Inc.
Cobalamin metabolism; Diagnostic test; Functional studies; Methylmalonic acid; Next generation sequencing gene panel; Vitamin B(12)
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