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

Molecular genetics and metabolism

Lance H Rodan, Wanshu Qi, Gregory S Ducker, …, Joshua D Rabinowitz, Irina Anselm, Gerard T Berry

• DOI: 10.1016/j.ymgme.2018.06.006
• PMID: 30031689
• PMCID: PMC6557438