Article
How should patients with cystine stone disease be evaluated and treated in the twenty-first century?
Urolithiasis - 1 Feb 2016
Andreassen Kim Hovgaard, Pedersen Katja Venborg, Osther Susanne Sloth, Jung Helene Ulrik, Lildal Søren Kissow, Osther Palle Joern Sloth
Abstract excerpt
Cystinuria continues to be one of the most challenging stone diseases. During the latest decades our knowledge of the molecular basis of cystinuria has expanded. Today 160 different mutations in the SLC3A1 gene and 116 in the SLC7A9 gene are listed. The full implications of type A, B or AB status are not yet fully understood but may have implications for prognosis, management and treatment. Despite better...
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