MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults

Mandia D, Metodiev MD, Benoist JF, Gaignard P, Ruzzenente B, Zuchner S, Beijer D, Fernandez-Eulate G, Rotig A, Lamari F, Rucheton B, Rouzier C, Navarro LR, Saadi SA, Cintas P, Maquet J, Masingue M, Shor N, Nadjar Y

Journal of inherited metabolic disease