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 muta...

by Perruzza, Italia, Di Pietro, Valentina, Tavazzi, Barbara, Lazzarino, Giuseppe, Gamberini, Marco, Barsotti, Paola, Amorini, Angela Maria, Giardina, Bruno, Balducci, Alessandro
Published 2008