Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases
Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid reabsorption at the renal tubules. Patients present with serum uric acid concentrations of less than 2 mg/dl (119 μmol/L) with increased fractional excretion above 10%. Most of...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-07-01
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| Series: | Nefrología (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2013251419301105 |