A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

por Romero, Jacqueline A., Abdelmoumen, Imane, Hasbani, Daphne, Khurana, Divya S., Schneider, Michael C.
Publicado 2019