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A third case of formiminotransferase deficiency syndrome was described, which was associated with megaloblastic-pyridoxine-folic acid-responsive anemia of probably congenital origin. The occurrence of megaloblastic pyridoxine-folic acid-responsive anemia was not observed in two cases of formiminotransferase deficiency syndrome previously reported by us.

Formiminotransferase Deficiency Syndrome Associated with Megaloblastic Anemia Responsive to Pyridoxine or Folic Acid