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Familial renal hypouricemia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Familial renal hypouricemia" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Familial renal hypouricemia" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Familial renal hypouricemia" returned 1 free, full-text research articles. First 1 results:
Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.
Last Updated: Nov 21, 2013

To date, 11 loss of function mutations in the human urate transporter 1 (hURAT1) gene have been identified in subjects with idiopathic renal hypouricemia. In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory ...

Normal urate transport into erythrocytes in familial renal hypouricemia and in the Dalmatian dog.
Last Updated: Nov 13, 2018

It has been hypothesized that humans with familial renal hypouricemia may have a generalized defect of urate transport across cell membranes due to the genetic deletion of a specific carrier, a defect similar to that reported in the Dalmatian dog. In this study the transport of urate ...

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