Abstract
Primary hyperoxalurias (PH) comprise a group of three distinct metabolic diseases caused by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in several aspects of PH research. This paper reviews current knowledge of the genetic and biochemical basis of PH, the specific epidemiology and clinical presentation of each type, and therapeutic approaches in different disease stages. Potential future specific therapies are discussed.
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The authors are indebted to Dr. Ruth Belostotsky for designing Fig. 2.
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Ben-Shalom, E., Frishberg, Y. Primary hyperoxalurias: diagnosis and treatment. Pediatr Nephrol 30, 1781–1791 (2015). https://doi.org/10.1007/s00467-014-3030-1
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DOI: https://doi.org/10.1007/s00467-014-3030-1