Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

Articles

• Recent
• Most accessed

1. Content Type:Review

     |  24 April 2018

   Adenosine deaminase deficiency: a review

   Authors:Aisling M. Flinn and Andrew R. Gennery
2. Content Type:Review

     |  23 April 2018

   Patient reported outcome measures in rare diseases: a narrative review

   Authors:Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin and Melanie Calvert
3. Content Type:Research

     |  23 April 2018

   Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1

   Authors:Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner and Jan M. Friedman
4. Content Type:Research

     |  23 April 2018

   Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?

   Authors:Ronnaug Saeves, Finn Strøm, Leiv Sandvik and Hilde Nordgarden
5. Content Type:Research

     |  23 April 2018

   Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis

   Authors:Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert and Christian F. Poets

Most recent articles RSS

View all articles

Featured series: Spinraza

One of the journals in our extended family, Gene Therapy, is featuring a special issue this month, entitled "Spinraza and advanced therapies: a stakeholder special". This issue is a vital resource for all stakeholders in the development of advanced therapies such as Spinraza, which is used to treat spinal muscular atrophy