Condition: Glutamate formiminotransferase deficiency


rs200283734 in FTCD gene and Glutamate formiminotransferase deficiency PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 12815595 2003 The molecular basis of glutamate formiminotransferase deficiency.

PMID 29178637 2017 Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

PMID 25689098 2015 Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

rs28941768 in FTCD-AS1;FTCD gene and Glutamate formiminotransferase deficiency PMID 12815595 2003 The molecular basis of glutamate formiminotransferase deficiency.