Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The official journal of Orphanet, the portal for rare diseases and orphan drugs.

Featured competition: Findacure

After last year’s success, OJRD is proud to partner with Findacure again on "The Student Voice", an essay competition designed to raise awareness of rare diseases in the doctors and researchers of tomorrow, as well as giving an outlet for their rare disease experiences and thoughts.

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Editor-in-chief

Ségolène Aymé, Hopital Broussais, INSERM

Articles

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1. RESEARCH

   Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

   Steven T. Merrill, Gary R. Nelson, Nicola Longo and Joshua L. Bonkowsky

   Published on: 7 December 2016
2. REVIEW

   Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review

   Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi and Marco Gattorno

   Published on: 7 December 2016
3. RESEARCH

   Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

   Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham, Monica Lamoureux, Sara D. Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl Greenberg, Robin Z. Hayeems, Shailly Jain-Ghai, Jonathan B. Kronick, Anne-Marie Laberge…

   Published on: 7 December 2016
4. LETTER TO THE EDITOR

   Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia

   Alexandre J. Vivanti, Anne-Gael Cordier, Geneviève Baujat and Alexandra Benachi

   Published on: 5 December 2016
5. RESEARCH

   Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

   Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn…

   Published on: 3 December 2016

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