Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

• Research

   

  

  Glycogen storage disease type III: modified Atkins diet improves myopathy

  Mayorandan S, Meyer U, Hartmann H and Das AMOrphanet Journal of Rare Diseases 2014, 9:196 (28 November 2014)
• Research

   

  

  Pregnancy complications in acquired thrombotic thrombocytopenic purpura: a case–control study

  Ferrari B, Maino A, Lotta LA, Artoni A, Pontiggia S, Trisolini SM, Malato A, Rosendaal FR et al.Orphanet Journal of Rare Diseases 2014, 9:193 (28 November 2014)
• Research

   

  

  Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)

  Jean S, Richer L, Laberge L and Mathieu JOrphanet Journal of Rare Diseases 2014, 9:186 (26 November 2014)
• Research

   

  

  TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

  Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S et al.Orphanet Journal of Rare Diseases 2014, 9:182 (26 November 2014)
• Research

   

  

  Genomic screening of testicular germ cell tumors from monozygotic twins

  Silveira SM, da Cunha IW, Marchi FA, Busso AF, Lopes A and Rogatto SROrphanet Journal of Rare Diseases 2014, 9:181 (26 November 2014)
• Review

   

  

  Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

  Nie S, Chen G, Cao X and Zhang YOrphanet Journal of Rare Diseases 2014, 9:179 (26 November 2014)
• Research

   

  

  Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype

  Schelleckes M, Lenders M, Guske K, Schmitz B, Tanislav C, Ständer S, Metze D, Katona I et al.Orphanet Journal of Rare Diseases 2014, 9:178 (26 November 2014)
• Research

   

  

  Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

  Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MAJ et al.Orphanet Journal of Rare Diseases 2014, 9:177 (26 November 2014)
• Research

   

  

  Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

  Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D and Rohrbach MOrphanet Journal of Rare Diseases 2014, 9:176 (26 November 2014)
• Research

   

  

  Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

  Dorboz I, Coutelier M, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G et al.Orphanet Journal of 

Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services:

•  An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
•  An encyclopedia of rare diseases in six languages.
•  An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorization.
•  A directory of specialised services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials,registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network.
•  An assistance-to-diagnosis toolallowing users to search by signs and symptoms.
•  An encyclopedia of recommendations and guidelines for emergency medical care.
•  A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
•  A collection of thematic reports, theOrphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
•  Free access to Orphanet data for research purpose is available atwww.orphadata.org.