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  1. Authors: Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip and Jill Clayton-Smith
    Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20

    This article is part of a Supplement: Volume 5 Supplement 1

  2. Authors: Marcin Mikos, Mikolaj Krzyzanowski, Wojciech Cichy, Pawel Wojtowicz and Anna Sandurska
    Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P7

    This article is part of a Supplement: Volume 5 Supplement 1

  3. Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and pro...

    Authors: Olivier Devuyst and Rajesh V Thakker
    Citation: Orphanet Journal of Rare Diseases 2010 5:28
  4. Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendo...

    Authors: Hauke Schneider, Alexandra Lingesleben, Hans-Peter Vogel, Rita Garuti and Sebastiano Calandra
    Citation: Orphanet Journal of Rare Diseases 2010 5:27