Orphanet Journal of Rare Diseases

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Latest articles

Review

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]

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]

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]

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]

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]

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]

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]

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]

Review

Corneal dystrophies
Gordon K Klintworth
Orphanet Journal of Rare Diseases 2009, 4:7 (23 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, Agnès Bloch-Zupan
Orphanet Journal of Rare Diseases 2009, 4:6 (21 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review

Osteopetrosis
Zornitza Stark, Ravi Savarirayan
Orphanet Journal of Rare Diseases 2009, 4:5 (20 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review

Distal Xq duplication and functional Xq disomy
Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau
Orphanet Journal of Rare Diseases 2009, 4:4 (20 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review

Amyotrophic lateral sclerosis
Lokesh C Wijesekera, P Nigel Leigh
Orphanet Journal of Rare Diseases 2009, 4:3 (3 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review

Tetralogy of Fallot
Frederique Bailliard, Robert H Anderson
Orphanet Journal of Rare Diseases 2009, 4:2 (13 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review

Progressive familial intrahepatic cholestasis
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, Emmanuel Jacquemin
Orphanet Journal of Rare Diseases 2009, 4:1 (8 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review

Malignant mesothelioma
Alastair J Moore, Robert J Parker, John Wiggins
Orphanet Journal of Rare Diseases 2008, 3:34 (19 December 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research

Incentives for orphan drug research and development in the United States
Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach, Jay Visaria
Orphanet Journal of Rare Diseases 2008, 3:33 (16 December 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review