Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Site
Oxford
Pubmed id
30682498
Authors

Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, Bürer C, Lutz S, Fowler B, Froese DS, Yue WW, Baumgartner MR

DOI
10.1016/j.bbadis.2019.01.021
Journal
Biochim Biophys Acta Mol Basis Dis
Publication Date
2019-1-22
Year
2019
N Publication Date
Validated
Y