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)
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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)
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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)
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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)
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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)
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Review
Corneal dystrophies
Gordon K Klintworth
Orphanet Journal of Rare Diseases 2009, 4:7 (23 February 2009)
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