Article
Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 25 Apr 2022
Singh Prince, Viehman Jason K, Mehta Ramila A, Cogal Andrea G, Hasadsri Linda, Oglesbee Devin, Olson Julie B, Seide Barbara M, Sas David J, Harris Peter C, Lieske John C, Milliner Dawn S
Abstract excerpt
BACKGROUND: Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2. METHODS:...
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