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[Glutamate-formiminotransferase deficiency].
Narisawa K. Narisawa K. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):204-6. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645043 Review. Japanese. No abstract available.
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
Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.
Solans A, Estivill X, de la Luna S. Solans A, et al. Cytogenet Cell Genet. 2000;88(1-2):43-9. doi: 10.1159/000015483. Cytogenet Cell Genet. 2000. PMID: 10773664
The sequence reported here may be helpful in identifying the primary defect in glutamate formiminotransferase deficiency and establishing a molecular diagnosis....
The sequence reported here may be helpful in identifying the primary defect in glutamate formiminotransferase deficiency
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
Watkins D, Rosenblatt DS. Watkins D, et al. J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23. J Inherit Metab Dis. 2012. PMID: 22108709 Review.
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 b …
Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in …
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Ahrens-Nicklas RC, Ganetzky RD, Rush PW, Conway RL, Ficicioglu C. Ahrens-Nicklas RC, et al. J Inherit Metab Dis. 2019 Jan;42(1):140-146. doi: 10.1002/jimd.12035. J Inherit Metab Dis. 2019. PMID: 30740726 Free PMC article.
BACKGROUND: Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. ...
BACKGROUND: Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second mos …
Structure of the bifunctional and Golgi-associated formiminotransferase cyclodeaminase octamer.
Mao Y, Vyas NK, Vyas MN, Chen DH, Ludtke SJ, Chiu W, Quiocho FA. Mao Y, et al. EMBO J. 2004 Aug 4;23(15):2963-71. doi: 10.1038/sj.emboj.7600327. Epub 2004 Jul 22. EMBO J. 2004. PMID: 15272307 Free PMC article.
It is also linked to two human diseases, autoimmune hepatitis and glutamate formiminotransferase deficiency. Determination of the FTCD structure by X-ray crystallography and electron cryomicroscopy revealed that the eight subunits, each composed of distinct F …
It is also linked to two human diseases, autoimmune hepatitis and glutamate formiminotransferase deficiency. Determinat …
An Unusual Peak in a Common Clinical Presentation.
Sudrié-Arnaud B, Snanoudj S, Imbard A, Dabaj I, Tebani A. Sudrié-Arnaud B, et al. Clin Chem. 2021 Apr 29;67(5):799-801. doi: 10.1093/clinchem/hvab012. Clin Chem. 2021. PMID: 33928370 No abstract available.
11 results