Disease: Glutamate formiminotransferase deficiency
- "HYPERFOLIC-ACIDEMIA WITH FORMIMINOGLUTAMIC-ACIDURIA FOLLOWING HISTIDINE LOADING". SUGGESTED FOR A CASE OF CONGENITAL DEFICIENCY IN FORMIMINOTRANSFERASE
- A folate-dependent metabolite in amniotic fluid from pregnancies with normal or trisomy 21 chromosomes
- Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
- An Unusual Peak in a Common Clinical Presentation
- Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
- Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency
- Congenital errors of folate metabolism
- Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening
- Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease
- Formiminoglutamic/hydantoinpropionic aciduria in three patients with different tumours
- Genetic defects of folate and cobalamin metabolism
- Glutamate-formiminotransferase deficiency
- Histidine catabolism is a major determinant of methotrexate sensitivity
- Significance of formiminoglutamic acid analysis in clinical tests
- Structure of the bifunctional and Golgi-associated formiminotransferase cyclodeaminase octamer
- The molecular basis of glutamate formiminotransferase deficiency
- Update and new concepts in vitamin responsive disorders of folate transport and metabolism