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Papers of the Week


2022 Nov 21


Pediatr Nephrol

Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.

Authors

Alfadhel M, Umair M, Alghamdi MA, Al Fakeeh K, Al Qahtani AT, Farahat A, Shalaby MA, Kari JA, Raina R, Cochat P, Alhasan KA
Pediatr Nephrol. 2022 Nov 21.
PMID: 36409364.

Abstract

Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure.