Results 141 to 150 of about 13,488 (222)

Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. [PDF]

J Am Soc Nephrol, 2014
Kaartinen K, Hemmilä U, Salmela K, Räisänen-Sokolowski A, Kouri T, Mäkelä S.   +5 more
europepmc   +1 more source

Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177]. [PDF]

J Chromatogr B Analyt Technol Biomed Life Sci, 2018
Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IMS, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R.   +11 more
europepmc   +1 more source

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation. [PDF]

BMC Nephrol, 2014
Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.   +11 more
europepmc   +1 more source

Sulfolobus solfataricusadenine phosphoribosyltransferase [PDF]

Acta Crystallographica Section A Foundations of Crystallography, 2011
A. Kadziola, K. S. Jensen, A. Mølgaard, J. -C. N. Poulsen, K. F. Jensen   +4 more
openaire   +1 more source

Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. [PDF]

JIMD Rep, 2012
Marra G, Vercelloni PG, Edefonti A, Manzoni G, Pavesi MA, Fogazzi GB, Garigali G, Mockel L, Picot IC.   +8 more
europepmc   +1 more source

Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria. [PDF]

CEN Case Rep, 2016
Ikeda H, Watanabe T, Toyama D, Isoyama K.   +3 more
europepmc   +1 more source

Adenine Phosphoribosyltransferase from Monkey Liver

Journal of Biological Chemistry, 1969
T A Krenitsky, S M Neil, G B Elion, G H Hitchings   +3 more
openaire   +1 more source

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. [PDF]

J Am Soc Nephrol, 2010
Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I.   +9 more
europepmc   +1 more source

Inhibition of growth by FDA-approved anticancer and antiviral nucleoside and nucleobase analogs [PDF]

core   +1 more source

Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. [PDF]

Eur J Intern Med, 2018
Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R.   +8 more
europepmc   +1 more source