Glutamate formiminotransferase deficiency

01/01/1978 - "Methionine dependent glutamic acid formiminotransferase deficiency: human and experimental studies in its therapy."

01/01/1978 - "Methionine dependent glutamic acid formiminotransferase deficiency: human and experimental studies in its therapy."

05/01/1978 - "[Formiminotransferase deficiency and congenital malabsorption of folic acid]."
04/01/1976 - "Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblings."
08/20/1974 - "Folic acid non-dependent formiminoglutamic aciduria in two siblings."
01/01/1965 - "Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism."
01/01/2019 - "Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. "

04/01/1976 - "Before histidine loading, both girls with the postulated formiminotransferase deficiency excreted an amount of HPA more than 50 times greater than the control subjects. "
12/01/1968 - "14CO2 in expired air after radioactive histidine injection in formiminotransferase deficiency syndrome."
09/25/1963 - ""HYPERFOLIC-ACIDEMIA WITH FORMIMINOGLUTAMIC-ACIDURIA FOLLOWING HISTIDINE LOADING". "
11/01/2017 - "Elevated plasma and urine formiminoglutamic acid (FIGLU) levels are commonly indicative of formiminoglutamic aciduria (OMIM #229100), a poorly understood autosomal recessive disorder of histidine and folate metabolism, resulting from formiminotransferase-cyclodeaminase (FTCD) deficiency, a bifunctional enzyme encoded by FTCD. "

04/25/1966 - "Tetrahydrofolate-dependent enzyme activities of erythrocytes in formiminotransferase deficiency syndrome."
07/01/2003 - "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). "
11/01/2017 - "Elevated plasma and urine formiminoglutamic acid (FIGLU) levels are commonly indicative of formiminoglutamic aciduria (OMIM #229100), a poorly understood autosomal recessive disorder of histidine and folate metabolism, resulting from formiminotransferase-cyclodeaminase (FTCD) deficiency, a bifunctional enzyme encoded by FTCD. "

11/01/2017 - "Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria."
01/01/1986 - "Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency."
11/01/2017 - "Elevated plasma and urine formiminoglutamic acid (FIGLU) levels are commonly indicative of formiminoglutamic aciduria (OMIM #229100), a poorly understood autosomal recessive disorder of histidine and folate metabolism, resulting from formiminotransferase-cyclodeaminase (FTCD) deficiency, a bifunctional enzyme encoded by FTCD. "

07/01/2012 - "Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene). "

07/01/2003 - "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). "

02/25/1966 - "Aminoimidazolecarboxamide ribotide (AICAR)-transformylase of erythrocytes in formiminotransferase deficiency syndrome."

03/01/1972 - "Defect of incorporation of glycine-1- 14 C into urinary uric acid in formiminotransferase deficiency syndrome."

01/01/1978 - "Methionine dependent glutamic acid formiminotransferase deficiency: human and experimental studies in its therapy."