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Details on Person Adenine phosphoribosyltransferase deficiency

Class:IdLiteratureReference:9734150
_displayNameAdenine phosphoribosyltransferase deficiency
_timestamp2021-06-15 14:51:12
author[Person:9734159] Bollée, Guillaume
[Person:9734158] Harambat, Jérôme
[Person:9734164] Bensman, Albert
[Person:5617695] Knebelmann, Bertrand
[Person:9734155] Daudon, Michel
[Person:9734163] Ceballos-Picot, Irène
created[InstanceEdit:9734161] D'Eustachio, Peter, 2021-06-15
journalClin J Am Soc Nephrol
pages1521-7
pubMedIdentifier22700886
titleAdenine phosphoribosyltransferase deficiency
volume7
year2012
(literatureReference)[Summation:9734182] Normally in humans, adenine formed in processes such as poly...
[CatalystActivityReference:9734192] adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency
[FailedReaction:9734193] Defective APRT does not convert adenine to AMP [Homo sapiens]
[Pathway:9734195] Defective APRT disrupts adenine salvage [Homo sapiens]
[Pathway:9734207] Nucleotide salvage defects [Homo sapiens]
[Reaction:9758363] XDH oxidizes adenine to 2,8-dioxoadenine [Homo sapiens]
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No pathways have been reviewed or authored by Adenine phosphoribosyltransferase deficiency (9734150)