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Your search keyword '"Di Pietro, Valentina"' showing total 2 results
Start Over Author "Di Pietro, Valentina" Publisher oxford university press / usa
2 results on '"Di Pietro, Valentina"'

2. 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, and Balducci, Alessandro

Subjects
*VITAMIN B deficiency, *CHRONIC kidney failure, *URINARY calculi, *HEMODIALYSIS, *GENETIC carriers
Abstract

We describe two patients that had a history of recurrent renal stones and chronic renal insufficiency. The first case was a 51-year-old man with an adenine phophoribosyltransferase (APRT) deficiency who was diagnosed only after he had been referred for severe renal failure requiring hemodialysis. This led to a screening of the entire family, which identified six carriers and an additional affected relative (a 41-year-old man and the second case reported herein). Genetic analysis of the APRT gene revealed an atypical mutation previously described only once in a compound heterozygote. [ABSTRACT FROM PUBLISHER]

Published
2008
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