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Rare systemic diseases

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  1. Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor...

    Authors: Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier and Walter A. Wuillemin
    Citation: Orphanet Journal of Rare Diseases 2016 11:43
  2. Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisyste...

    Authors: Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal…
    Citation: Orphanet Journal of Rare Diseases 2016 11:26
  3. Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...

    Authors: Kristian A. Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R. Østergaard, Niels H. Andersen and Claus H. Gravholt
    Citation: Orphanet Journal of Rare Diseases 2015 10:153
  4. Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...

    Authors: Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett and Tarekegn Geberhiwot
    Citation: Orphanet Journal of Rare Diseases 2015 10:149
  5. Behçet’s Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patient...

    Authors: Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier and Farida Fortune
    Citation: Orphanet Journal of Rare Diseases 2015 10:117
  6. Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the safety, tolerability, pharmacokinetics, and pharma...

    Authors: Ole B Suhr, Teresa Coelho, Juan Buades, Jean Pouget, Isabel Conceicao, John Berk, Hartmut Schmidt, Márcia Waddington-Cruz, Josep M. Campistol, Brian R. Bettencourt, Akshay Vaishnaw, Jared Gollob and David Adams
    Citation: Orphanet Journal of Rare Diseases 2015 10:109
  7. Relapsing polychondritis is a rare disease characterised by inflammation of cartilaginous and proteoglycan rich structures. As there are only a few published single centre case series from all across the world...

    Authors: Aman Sharma, Arjun Dutt Law, Pradeep Bambery, Vinay Sagar, Ajay Wanchu, Varun Dhir, Rajesh Vijayvergiya, Kusum Sharma, Ashok Gupta, Naresh K Panda and Surjit Singh
    Citation: Orphanet Journal of Rare Diseases 2014 9:198
  8. There remains a critical need for more effective, safe, long-term treatments for cystic fibrosis (CF). Any successful therapeutic strategy designed to combat the respiratory pathology of this condition must ad...

    Authors: Cedric Charrier, Catherine Rodger, Jennifer Robertson, Aleksandra Kowalczuk, Nicola Shand, Douglas Fraser-Pitt, Derry Mercer and Deborah O’Neil
    Citation: Orphanet Journal of Rare Diseases 2014 9:189
  9. Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysio...

    Authors: John C Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J de Vries, Carla Fladrowski, Christoph Hertzberg, Anna C Jansen, Sergiusz Jozwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères…
    Citation: Orphanet Journal of Rare Diseases 2014 9:182