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Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failur...

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Detalhes bibliográficos
Main Authors: Kaartinen, Kati, Hemmilä, Ulla, Salmela, Kaija, Räisänen-Sokolowski, Anne, Kouri, Timo, Mäkelä, Satu
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3968508/
https://ncbi.nlm.nih.gov/pubmed/24459232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013090960
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