How should patients with cystine stone disease be evaluated and treated in the twenty-first century?

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 ar...

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Veröffentlicht in:Urolithiasis 2016-02, Vol.44 (1), p.65-76
Hauptverfasser: Andreassen, Kim Hovgaard, Pedersen, Katja Venborg, Osther, Susanne Sloth, Jung, Helene Ulrik, Lildal, Søren Kissow, Osther, Palle Joern Sloth
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Sprache:eng
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