Orphanet Journal of Rare Diseases | Home page

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Orphanet Journal of Rare Diseases

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1. CONTENT TYPE:REVIEW

     |  29 December 2017

   Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

   Authors:John W. Frew, Mark Davidson and Dedee F. Murrell
2. CONTENT TYPE:REVIEW

     |  22 December 2017

   Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

   Authors:Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani and Tania Stafinski
3. CONTENT TYPE:RESEARCH

     |  21 December 2017

   Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

   Authors:Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das and Sabine Illsinger
4. CONTENT TYPE:LETTER TO THE EDITOR

     |  20 December 2017

   Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1

   Authors:Rafaela E. Rozza-de-Menezes, Nicolle C. Gaglionone, Raquel M. Andrade-Losso, Orlando H. K. Siqueira, Lilian M. Almeida, Kamila da S. Peruzini, Marco A. C. Guimarães-Filho, Carolina I. Brum, Mauro Geller and Karin S. Cunha
5. CONTENT TYPE:RESEARCH

     |  19 December 2017

   Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

   Authors:Sandro Manuel Mueller, Saskia Maria Gehrig, Jens A. Petersen, Sebastian Frese, Violeta Mihaylova, Maria Ligon-Auer, Natalia Khmara, Jean-Marc Nuoffer, André Schaller, Carsten Lundby, Marco Toigo and Hans H. Jung

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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.

ADA-SCID

New Horizons in the Management of ADA-SCID, Springer Healthcare IME’s independent educational resource, is pleased to share its most recent updates: interviews at ESID, summaries of the latest research, free access to full-text articles, and full editorials. Coming soon: interactive patient cases, an on-demand webinar, and more expert interviews. The portal is for Paediatric/Adult Immunologists, Gene and Cell Therapy Clinicians, Transplant Specialists, Paediatricians and Haematologists designed to educate healthcare professionals who are presented with ADA-SCID patients. This educational activity is supported by an educational grant from GlaxoSmithKline.

Read here