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Results 1 - 1 of 1 for "Glutamate%formiminotransferase%deficiency"
  1. ... At least three FTCD gene mutations that cause glutamate formiminotransferase deficiency have been identified. Two of these mutations change ... affected individuals and, in some severe cases of glutamate formiminotransferase deficiency, a buildup of certain B vitamins called folates ...