The molecular basis of glutamate formiminotransferase deficiency.
Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS.
Hilton JF, et al.
Hum Mutat. 2003 Jul;22(1):67-73. doi: 10.1002/humu.10236.
Hum Mutat. 2003.
PMID: 12815595
Glutamate formiminotransferase deficiency, an autosomal recessive disorder and the second most common inborn error of folate metabolism, is presumed to be due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). ...We fo …
Glutamate formiminotransferase deficiency, an autosomal recessive disorder and the second most common inborn error of f …