Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism.
D001854:Bone Marrow Cells; D002875:Chromosomes; D005365:FIGLU Test; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D006128:Growth; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008099:Liver / Q000201:enzymology; D008111:Liver Function Tests; D008661:Metabolism, Inborn Errors; D013762:Tetrahydrofolate Dehydrogenase; D014166:Transferases
D005492:Folic Acid; D013762:Tetrahydrofolate Dehydrogenase; D014166:Transferases