Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)
Keywords: لکوودیستروفی; 5HIAA; 5-hydroxyindoleacetic acid; 5MTHF; 5-methyltetrahydrofolic acid; FRα; folate receptor alpha; FOLR1; folate receptor α gene; HVA; homovanillic acid; 3OMD; 3-O-methyl-dopa; LAMM; labyrinth aplasia, microtia and microdontia; FGF3; fibroblast growth