5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Venue / Journal

Mol Genet Metab

Date

Sat, 09/01/2018 - 12:00

Additional Journal Information

125(1-2):118-126

Authors

Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT.

Pubmed URL

http://www.ncbi.nlm.nih.gov/pubmed/30031689