Ausgabe 1/2008
Inhalt (34 Artikel)
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, Nathalie Guffon
Primary intestinal lymphangiectasia (Waldmann's disease)
Stéphane Vignes, Jérôme Bellanger
Syndromic (phenotypic) diarrhea in early infancy
Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cézard
Adaptive design methods in clinical trials – a review
Shein-Chung Chow, Mark Chang
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
Laura Fregonese, Jan Stolk
Congenital long QT syndrome
Lia Crotti, Giuseppe Celano, Federica Dagradi, Peter J Schwartz
Abetalipoproteinemia: two case reports and literature review
Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele
Monitoring clinical quality in rare disease services – experience in England
Thomas D Kenny, Edmund G Jessop, William H Gutteridge
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
David Moore, Martin J Connock, Ed Wraith, Christine Lavery
Centronuclear (myotubular) myopathy
Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn Laporte
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
Julie Desir, Marc Abramowicz
Asbestos-related pleural and lung fibrosis in patients with retroperitoneal fibrosis
Toomas Uibu, Ritva Järvenpää, Jari Hakomäki, Anssi Auvinen, Eero Honkanen, Kaj Metsärinne, Pekka Roto, Heikki Saha, Jukka Uitti, Panu Oksa
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia
Martin J Barron, Sinead T McDonnell, Iain MacKie, Michael J Dixon
Incentives for orphan drug research and development in the United States
Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach, Jay Visaria