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
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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Research
Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria, Onofrio Resta Orphanet Journal of Rare Diseases 2009, 4:10 (10 March 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Review
Jacobsen syndrome Teresa Mattina, Concetta Simona Perrotta, Paul Grossfeld Orphanet Journal of Rare Diseases 2009, 4:9 (7 March 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Case Report
Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report Edson Marchiori, José Luiz N Ferreira, Carolina N Bittencourt, César A de Araújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos, Alberto D Vianna Orphanet Journal of Rare Diseases 2009, 4:8 (5 March 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Review
Corneal dystrophies Gordon K Klintworth Orphanet Journal of Rare Diseases 2009, 4:7 (23 February 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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