 | articles |
Browse Orphanet Journal of Rare Diseases by date
| | Latest articles [more info]
| 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] 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] 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] 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] 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] 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] Research
 Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany Matthias Griese, Melanie Haug, Frank Brasch, Achim Freihorst, Peter Lohse, Rüdiger von Kries, Theodor Zimmermann, Dominik Hartl Orphanet Journal of Rare Diseases 2009, 4:26 (12 December 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Research
 Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola Orphanet Journal of Rare Diseases 2009, 4:25 (4 November 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Case Report
 Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati, Marina Colombi Orphanet Journal of Rare Diseases 2009, 4:24 (2 November 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 The Exstrophy-epispadias complex Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H Rösch Orphanet Journal of Rare Diseases 2009, 4:23 (30 October 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 Familial adenomatous polyposis Elizabeth Half, Dani Bercovich, Paul Rozen Orphanet Journal of Rare Diseases 2009, 4:22 (12 October 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring Björn Hoffmann Orphanet Journal of Rare Diseases 2009, 4:21 (11 October 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Case Report
 Arterial tortuosity syndrome in two Italian paediatric patients Marco Ritelli, Bruno Drera, Mariano Vicchio, Giovanni Puppini, Paolo Biban, Mara Pilati, Maria Antonia Prioli, Sergio Barlati, Marina Colombi Orphanet Journal of Rare Diseases 2009, 4:20 (25 September 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 Erythropoietic protoporphyria Mario Lecha, Hervé Puy, Jean-Charles Deybach Orphanet Journal of Rare Diseases 2009, 4:19 (10 September 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology Taisa Davaus Gasparetto, Edson Marchiori, Sílvia Lourenço, Gláucia Zanetti, Alberto Domingues Vianna, Alair ASMD Santos, Luiz Felipe Nobre Orphanet Journal of Rare Diseases 2009, 4:18 (14 July 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 Patent arterial duct Jonathan T Forsey, Ola A Elmasry, Robin P Martin Orphanet Journal of Rare Diseases 2009, 4:17 (10 July 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] Review
 Neurofibromatosis type 2 (NF2): A clinical and molecular review D Gareth R Evans Orphanet Journal of Rare Diseases 2009, 4:16 (19 June 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles] 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] [Full Text] [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]
|
|  
|