| | Other Issues: previous | next | latest | archiveCase Study Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia HJ Girschick, P Schneider, I Haubitz, O Hiort, H Collmann, M Beer, YS Shin, and HW Seyberth PMCID: PMC1533806 Editorial Orphanet Journal of Rare Diseases: Launch Editorial Ségolène Aymé, Bruno Dallapiccola, and Dian Donnai PMCID: PMC1435995 Research Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40 Katharina Leithner, Andreas Leithner, Heimo Clar, Andreas Weinhaeusel, Roman Radl, Peter Krippl, Peter Rehak, Reinhard Windhager, Oskar A Haas, and Horst Olschewski PMCID: PMC1664552 Reviews Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF) Melanie Ehrlich, Kelly Jackson, and Corry Weemaes PMCID: PMC1459120 Celiac disease Wolfgang Holtmeier and Wolfgang F Caspary PMCID: PMC1435993 Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect Nikos Protonotarios and Adalena Tsatsopoulou PMCID: PMC1435994 Otodental syndrome Agnès Bloch-Zupan and Jane R Goodman PMCID: PMC1459122 Systemic lupus erythematosus Jessica J Manson and Anisur Rahman PMCID: PMC1459118 Dopamine beta-hydroxylase deficiency Jean-Michel Senard and Philippe Rouet PMCID: PMC1459119 Complete atrioventricular canal Raffaele Calabrò and Giuseppe Limongelli PMCID: PMC1459121 Premature ovarian failure Paolo Beck-Peccoz and Luca Persani PMCID: PMC1502130 Glanzmann thrombasthenia Alan T Nurden PMCID: PMC1475837 Idiopathic chronic eosinophilic pneumonia Eric Marchand and Jean-François Cordier PMCID: PMC1464381 Solitary median maxillary central incisor (SMMCI) syndrome Roger K Hall PMCID: PMC1464380 Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome Dorothea Haas and Georg F Hoffmann PMCID: PMC1475558 Thromboangiitis obliterans (Buerger's disease) Perttu ET Arkkila PMCID: PMC1523324 Alpha thalassaemia-mental retardation, X linked Richard Gibbons PMCID: PMC1464382 Orphanet J Rare Dis. 2006; 1: 16. Published online 2006 May 18. doi: 10.1186/1750-1172-1-16.PMCID: PMC1526415 Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria) Ralph Gräsbeck PMCID: PMC1513194 Kikuchi-Fujimoto disease Xavier Bosch and Antonio Guilabert PMCID: PMC1481509 Pfeiffer syndrome Annick Vogels and Jean-Pierre Fryns PMCID: PMC1482682 Congenital contractural arachnodactyly (Beals syndrome) Ergül Tunçbilek and Yasemin Alanay PMCID: PMC1524931 Carney complex (CNC) Jérôme Bertherat PMCID: PMC1513551 Microvillous inclusion disease (microvillous atrophy) Frank M Ruemmele, Jacques Schmitz, and Olivier Goulet PMCID: PMC1523325 Nasopharyngeal carcinoma Bernadette Brennan PMCID: PMC1559589 Hypersensitivity pneumonitis Yves Lacasse and Yvon Cormier PMCID: PMC1533805 Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) Griet Van Buggenhout and Jean-Pierre Fryns PMCID: PMC1538574 Cardiomyopathy, familial dilated Matthew RG Taylor, Elisa Carniel, and Luisa Mestroni PMCID: PMC1559590 Biliary atresia Christophe Chardot PMCID: PMC1560371 Walker-Warburg syndrome Jiri Vajsar and Harry Schachter PMCID: PMC1553431 Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba, and William P Cheshire PMCID: PMC1563447 Retinoblastoma Isabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, Hervé Brisse, François Doz, and Laurence Desjardins PMCID: PMC1586012 Congenital Cataracts – Facial Dysmorphism – Neuropathy Luba Kalaydjieva PMCID: PMC1563997 Cri du Chat syndrome Paola Cerruti Mainardi PMCID: PMC1574300 CHARGE syndrome Kim D Blake and Chitra Prasad PMCID: PMC1586184 Brugada syndrome Carlo Napolitano and Silvia G Priori PMCID: PMC1592481 Plummer-Vinson syndrome Gottfried Novacek PMCID: PMC1586011 Ollier disease Caroline Silve and Harald Jüppner PMCID: PMC1592482 Multiple endocrine neoplasia type 1 Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Alessia Gozzini, Ettore Luzi, and Maria Luisa Brandi PMCID: PMC1594566 Foetal and neonatal alloimmune thrombocytopaenia Cecile Kaplan PMCID: PMC1624806 Retinitis pigmentosa Christian Hamel PMCID: PMC1621055 Primary sclerosing cholangitis Joy Worthington and Roger Chapman PMCID: PMC1636629 Klinefelter syndrome and other sex chromosomal aneuploidies Jeannie Visootsak and John M Graham, Jr PMCID: PMC1634840 Congenital pulmonary lymphangiectasia Carlo Bellini, Francesco Boccardo, Corradino Campisi, and Eugenio Bonioli PMCID: PMC1637094 Multiple endocrine neoplasia type 2 Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Isabella Tognarini, Ettore Luzi, and Maria Luisa Brandi PMCID: PMC1654141 Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy) François Lanza PMCID: PMC1660532 Autosomal recessive cerebellar ataxias Francesc Palau and Carmen Espinós PMCID: PMC1664553 Early onset torsion dystonia (Oppenheim's dystonia) Christoph Kamm PMCID: PMC1693547 Pheochromocytomas and secreting paragangliomas Pierre-François Plouin and Anne-Paule Gimenez-Roqueplo PMCID: PMC1702343 KBG syndrome Francesco Brancati, Anna Sarkozy, and Bruno Dallapiccola PMCID: PMC1764006 Coronary arterial fistulas Shakeel A Qureshi PMCID: PMC1764722 |
