Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

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

OJRD's 10th Anniversary

Please visit our special 10th Anniversary/ Rare Disease Day site, for new publications, blogs, a quiz, and "OJRD Classics", a look at the journal and its advocacy for the voices of rare diseases over the last decade.

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1. RESEARCH

   The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

   Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Caroline E. Walker, Caron Molster, Jenefer M. Blackwell, Sarra Jamieson, Dave Tang…

   Published on: 11 June 2016
2. REVIEW

   Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

   Roberto Giugliani, Filippo P. Vairo, Mariluce Riegel, Carolina F. M. de Souza, Ida V. D. Schwartz and Sérgio D. J. Pena

   Published on: 10 June 2016
3. RESEARCH

   Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015

   Timm Greulich, Christoph Nell, Christian Herr, Claus Vogelmeier, Viktor Kotke, Stefan Wiedmann, Marion Wencker, Robert Bals and Andreas Rembert Koczulla

   Published on: 10 June 2016
4. RESEARCH

   Catastrophic expenditure and impoverishment of patients affected by 7 rare diseases in China

   Xiao-Xiong Xin, Xiao-Dong Guan and Lu-Wen Shi

   Published on: 6 June 2016
5. RESEARCH

   Estimating epidemiological data of Multiple sclerosis using hospitalized data in Shandong Province, China

   Xiao Liu, Yazhou Cui and Jinxiang Han

   Published on: 4 June 2016

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