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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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Review
Familial adenomatous polyposis
Elizabeth Half, Dani Bercovich, Paul Rozen
Orphanet Journal of Rare Diseases 2009, 4:22 (12 October 2009)
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Review
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
Björn Hoffmann
Orphanet Journal of Rare Diseases 2009, 4:21 (11 October 2009)
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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)
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Review
Erythropoietic protoporphyria
Mario Lecha, Hervé Puy, Jean-Charles Deybach
Orphanet Journal of Rare Diseases 2009, 4:19 (10 September 2009)
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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)
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Review
Patent arterial duct
Jonathan T Forsey, Ola A Elmasry, Robin P Martin
Orphanet Journal of Rare Diseases 2009, 4:17 (10 July 2009)
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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)
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Case Report
Triptans and troponin: a case report
Claudia R Weder, Markus Schneemann
Orphanet Journal of Rare Diseases 2009, 4:15 (18 June 2009)
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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)
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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)
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