| 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
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009
Sébastien Héritier, Martine Le Merrer, Francis Jaubert, Michèle Bigorre, Marion Gillibert-Yvert, Benoit de Courtivron, Makram Ziade, Yves Bertrand, Christian Carrie, Pascal Chastagner, Cécile Bost-Bru, Jean-Claude Léonard, Marie Ouache, Liliane Boccon-Gibod, Pierre Mary, Jacques de Blic, Isabelle Pin, Daniel Wendling, Yann Revillon, Véronique Houdoin, Véronique Forin, Hubert Ducou Lepointe, Jane Languepin, Jeanne Wagnon, Ralph Epaud, Brigitte Fauroux, Jean Donadieu
Orphanet Journal of Rare Diseases 2010, 5:3 (3 February 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Review
Rothmund-Thomson syndrome
Lidia Larizza, Gaia Roversi, Ludovica Volpi
Orphanet Journal of Rare Diseases 2010, 5:2 (29 January 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Case Report
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report
Natalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, Teresa M Pérez-Menéndez, Fernando Santos
Orphanet Journal of Rare Diseases 2010, 5:1 (14 January 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Research
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance
David N Douda, Nicole Farmakovski, Sharon Dell, Hartmut Grasemann, Nades Palaniyar
Orphanet Journal of Rare Diseases 2009, 4:29 (23 December 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Case Report
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
David Cassiman, Renate Zeevaert, Elisabeth Holme, Eli-Anne Kvittingen, Jaak Jaeken
Orphanet Journal of Rare Diseases 2009, 4:28 (15 December 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Research
No difference in between-country variability in use of newly approved orphan and non- orphan medicinal products - a pilot study
Pieter Stolk, Harald E Heemstra, Hubert GM Leufkens, Brigitte Bloechl-Daum, Eibert R Heerdink
Orphanet Journal of Rare Diseases 2009, 4:27 (14 December 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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