Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation

Adenine phosphoribosyltransferase (APRT) deficiency, a rare inborn error inherited as an autosomic recessive trait, presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy. We describe clinical, biochemical and molecular findings in a renal transplant recipient with renal failure, 2,8-DHA s...

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Vydáno v:NDT Plus
Hlavní autoři: Micheli, Vanna, Massarino, Fabio, Jacomelli, Gabriella, Bertelli, Matteo, Corradi, Maria Rita, Guerrini, Andrea, Cucchiara, Antonino, Ravetti, Jean Louis, Negretti, Laura, Cannella, Giuseppe
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4421695/
https://ncbi.nlm.nih.gov/pubmed/25984046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndtplus/sfq096
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