Skip to main content

Articles

Page 73 of 82

  1. The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each...

    Authors: Amanda G Silva, Maria Isabel Waddington Achatz, Ana CV Krepischi, Peter L Pearson and Carla Rosenberg
    Citation: Orphanet Journal of Rare Diseases 2012 7:101
  2. Pathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, e...

    Authors: Xiao-dan Yao, Xin Chen, Gao-yuan Huang, Yan-ting Yu, Shu-tian Xu, Yang-lin Hu, Qing-wen Wang, Hui-ping Chen, Cai-hong Zeng, Da-xi Ji, Wei-xin Hu, Zheng Tang and Zhi-hong Liu
    Citation: Orphanet Journal of Rare Diseases 2012 7:100
  3. Diffuse alveolar hemorrhage syndrome is a life threatening condition with diverse etiologies. Sensitive prognostic markers for diffuse alveolar hemorrhage have not been well investigated. Serum KL-6 is a bioma...

    Authors: Yoshiko Kida, Shinichiro Ohshimo, Kohei Ota, Tomoko Tamura, Tadatsugu Otani, Kazunobu Une, Takuma Sadamori, Yasumasa Iwasaki, Francesco Bonella, Noboru Hattori, Nobuyuki Hirohashi, Josune Guzman, Ulrich Costabel, Nobuoki Kohno and Koichi Tanigawa
    Citation: Orphanet Journal of Rare Diseases 2012 7:99
  4. A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...

    Authors: David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva…
    Citation: Orphanet Journal of Rare Diseases 2012 7:96
  5. Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.

    Authors: Jianjun Qiao, Hong Fang and Hongtian Yao
    Citation: Orphanet Journal of Rare Diseases 2012 7:95
  6. The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads t...

    Authors: Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs and Jaak Jaeken
    Citation: Orphanet Journal of Rare Diseases 2012 7:94

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:120

  7. The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria Ini...

    Authors: Mette C Tollånes, Aasne K Aarsand, Jørild Haugen Villanger, Egil Støle, Jean-Charles Deybach, Joanne Marsden, Jordi To-Figueras and Sverre Sandberg
    Citation: Orphanet Journal of Rare Diseases 2012 7:93
  8. Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypica...

    Authors: Kristen A Pickett, Ryan P Duncan, James Hoekel, Bess Marshall, Tamara Hershey and Gammon M Earhart
    Citation: Orphanet Journal of Rare Diseases 2012 7:92
  9. Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues. We report o...

    Authors: Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Laura Barisoni, Charles J Jennette, Alexander Bragat, Jeff Castelli, Sheela Sitaraman, David J Lockhart and Pol F Boudes
    Citation: Orphanet Journal of Rare Diseases 2012 7:91
  10. Authors: Stephanie S Weinreich, Charlotte Vrinten, Jan JGM Verschuuren, Carin A Uyl-de Groot, Marja R Kuijpers, Ellen Sterrenburg, Rob JPM Scholten, Cees FRM van Bezooijen, Marcel FTH Timmen, Sonja van Weely and Martina C Cornel
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A29

    This article is part of a Supplement: Volume 7 Supplement 2

  11. Authors: Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen and Judith CT van Deutekom
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A20

    This article is part of a Supplement: Volume 7 Supplement 2