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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
  The official journal of Orphanet

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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