Ausgabe 1/2006
Inhalt (51 Artikel)
Orphanet Journal of Rare Diseases: Launch Editorial
Ségolène Aymé, Bruno Dallapiccola, Dian Donnai
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
Melanie Ehrlich, Kelly Jackson, Corry Weemaes
Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect
Nikos Protonotarios, Adalena Tsatsopoulou
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Dorothea Haas, Georg F Hoffmann
Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)
Ralph Gräsbeck
Congenital contractural arachnodactyly (Beals syndrome)
Ergül Tunçbilek, Yasemin Alanay
Microvillous inclusion disease (microvillous atrophy)
Frank M Ruemmele, Jacques Schmitz, Olivier Goulet
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, HW Seyberth
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
Griet Van Buggenhout, Jean-Pierre Fryns
Cardiomyopathy, familial dilated
Matthew RG Taylor, Elisa Carniel, Luisa Mestroni
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba, William P Cheshire
Retinoblastoma
Isabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, Hervé Brisse, François Doz, Laurence Desjardins
Multiple endocrine neoplasia type 1
Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Alessia Gozzini, Ettore Luzi, Maria Luisa Brandi
Klinefelter syndrome and other sex chromosomal aneuploidies
Jeannie Visootsak, John M Graham Jr
Congenital pulmonary lymphangiectasia
Carlo Bellini, Francesco Boccardo, Corradino Campisi, Eugenio Bonioli
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, Horst Olschewski
Multiple endocrine neoplasia type 2
Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Isabella Tognarini, Ettore Luzi, Maria Luisa Brandi
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
François Lanza
Pheochromocytomas and secreting paragangliomas
Pierre-François Plouin, Anne-Paule Gimenez-Roqueplo