Article
Genetic analysis--a diagnostic tool for primary hyperoxaluria type I.
Pediatric nephrology (Berlin, Germany) - 1 Nov 2002
Milosevic Danko, Rinat Choni, Batinic Danica, Frishberg Yaacov
Abstract excerpt
Primary hyperoxaluria type I is an autosomal recessive metabolic disease in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of disease, ranging from renal failure in infancy to mere renal stones in late adulthood. The diagnosis may be suspected when clinical signs and increased urinary oxalate and glycolate excretion present, and is confirmed by the...
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