Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure

We describe an infant affected by adenine phosphoribosyltransferase (APRT) deficiency diagnosed at 18 months of age with a de novo mutation that has not been previously reported. APRT deficiency is a rare defect of uric acid catabolism that leads to the accumulation of 2,8 dihydroxyadenine (2,8-DHA)...

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Hlavní autoři: Marra, Giuseppina, Vercelloni, Paolo Gilles, Edefonti, Alberto, Manzoni, Gianantonio, Pavesi, Maria Angela, Fogazzi, Giovanni Battista, Garigali, Giuseppe, Mockel, Lionel, Picot, Irene Ceballos
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509922/
https://ncbi.nlm.nih.gov/pubmed/23430916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_92
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