Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure A report of two cases in a family with an uncommon novel mutation

Author： Perruzza Italia   Di Pietro Valentina   Tavazzi Barbara   Lazzarino Giuseppe   Gamberini Marco   Barsotti Paola   Amorini Angela Maria   Giardina Bruno   Balducci Alessandro  

Publisher： Oxford University Press

ISSN： 1753-0784

Source： NDT PLUS, Vol.1, Iss.5, 2008-10, pp. : 292-295

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