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Details on Person Adenine phosphoribosyltransferase deficiency
| Class:Id | LiteratureReference:9734150 |
| _displayName | Adenine phosphoribosyltransferase deficiency |
| _timestamp | 2021-06-15 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 |
| journal | Clin J Am Soc Nephrol |
| pages | 1521-7 |
| pubMedIdentifier | 22700886 |
| title | Adenine phosphoribosyltransferase deficiency |
| volume | 7 |
| year | 2012 |
| (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)