• Impact Factor 1.30 • Editors-in-Chief:Ségolène Aymé, Inserm, Hôpital Broussais; Bruno Dallapiccola, Istituto CSS-Mendel; Dian Donnai, The University of Manchester
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Welcome to Orphanet Journal of Rare Diseases
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.Orphanet Journal of Rare Diseases is the official journal of Orphanet , the European portal for rare diseases and orphan drugs.
Case Report
Abetalipoproteinemia: two case reports and literature review Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele Orphanet Journal of Rare Diseases 2008, 3 :19 (8 July 2008) [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Review
Congenital long QT syndrome Lia Crotti, Giuseppe Celano, Federica Dagradi, Peter J Schwartz Orphanet Journal of Rare Diseases 2008, 3 :18 (7 July 2008) [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Review
Acromegaly Philippe Chanson, Sylvie Salenave Orphanet Journal of Rare Diseases 2008, 3 :17 (25 June 2008) [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Review
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences Laura Fregonese, Jan Stolk Orphanet Journal of Rare Diseases 2008, 3 :16 (19 June 2008) [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
Review
Brachydactyly Samia A Temtamy, Mona S Aglan Orphanet Journal of Rare Diseases 2008, 3 :15 (13 June 2008) [Abstract ] [Full Text ] [PDF ] [PubMed ] [Related articles ]
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