Editors-in-Chief: Ségolène Aymé, Inserm, Hôpital Broussais; Bruno Dallapiccola, Istituto CSS-Mendel; Dian Donnai, The University of Manchester
The official journal of Orphanet, the European portal for rare diseases and orphan drugs
Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews solicited from experts in the field and also considers research on new syndromes and results of clinical trials of exceptional interest.
Latest articles

Review
 Neurofibromatosis type 2 (NF2): A clinical and molecular review D Gareth R Evans Orphanet Journal of Rare Diseases 2009, 4:16 (19 June 2009) [Abstract] [Provisional PDF] [PubMed] [Related articles]
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Case Report
 Triptans and troponin: a case report Claudia R Weder, Markus Schneemann Orphanet Journal of Rare Diseases 2009, 4:15 (18 June 2009) [Abstract] [Provisional PDF] [PubMed] [Related articles]
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Research
 Cardiac magnetic resonance imaging in Alström syndrome Margaret A Loudon, Nicholas G Bellenger, Catherine M Carey, Richard B Paisey Orphanet Journal of Rare Diseases 2009, 4:14 (10 June 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Case Report
 Multisegmental spondylitis due to Tropheryma whipplei: Case report David Spoerl, Diego Bär, Julian Cooper, Thomas Vogt, Alan Tyndall, Ulrich A Walker Orphanet Journal of Rare Diseases 2009, 4:13 (3 June 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Research
 Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil, Maurizio Luisetti Orphanet Journal of Rare Diseases 2009, 4:12 (15 April 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Review
 Sheldon-Hall syndrome Reha M Toydemir, Michael J Bamshad Orphanet Journal of Rare Diseases 2009, 4:11 (23 March 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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