| | Other Issues: previous | next | latest | archiveCase Reports Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, and Nathalie Guffon PMCID: PMC2262878 Abetalipoproteinemia: two case reports and literature review Rola Zamel, Razi Khan, Rebecca L Pollex, and Robert A Hegele PMCID: PMC2467409 Commentary Monitoring clinical quality in rare disease services – experience in England Thomas D Kenny, Edmund G Jessop, and William H Gutteridge PMCID: PMC2553068 Research The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK David Moore, Martin J Connock, Ed Wraith, and Christine Lavery PMCID: PMC2553763 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, and Panu Oksa PMCID: PMC2596089 Incentives for orphan drug research and development in the United States Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach, and Jay Visaria PMCID: PMC2631478 Reviews Primary biliary cirrhosis Teru Kumagi and E Jenny Heathcote PMCID: PMC2266722 Multiple osteochondromas Judith VMG Bovée PMCID: PMC2276198 Monosomy 18p Catherine Turleau PMCID: PMC2265258 Primary intestinal lymphangiectasia (Waldmann's disease) Stéphane Vignes and Jérôme Bellanger PMCID: PMC2288596 Syndromic (phenotypic) diarrhea in early infancy Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, and Jean-Pierre Cézard PMCID: PMC2279108 Hereditary sensory neuropathy type I Michaela Auer-Grumbach PMCID: PMC2311280 Idiopathic pulmonary fibrosis Eric B Meltzer and Paul W Noble PMCID: PMC2330030 Brown-Vialetto-Van Laere syndrome Sivakumar Sathasivam PMCID: PMC2346457 The Greig cephalopolysyndactyly syndrome Leslie G Biesecker PMCID: PMC2397380 Adaptive design methods in clinical trials – a review Shein-Chung Chow and Mark Chang PMCID: PMC2422839 McCune-Albright syndrome Claudia E Dumitrescu and Michael T Collins PMCID: PMC2459161 Leopard syndrome Anna Sarkozy, Maria Cristina Digilio, and Bruno Dallapiccola PMCID: PMC2467408 Deletion 22q13.3 syndrome Mary C Phelan PMCID: PMC2427010 Brachydactyly Samia A Temtamy and Mona S Aglan PMCID: PMC2441618 Hereditary alpha-1-antitrypsin deficiency and its clinical consequences Laura Fregonese and Jan Stolk PMCID: PMC2441617 Acromegaly Philippe Chanson and Sylvie Salenave PMCID: PMC2459162 Congenital long QT syndrome Lia Crotti, Giuseppe Celano, Federica Dagradi, and Peter J Schwartz PMCID: PMC2474834 Cluster headache Elizabeth Leroux and Anne Ducros PMCID: PMC2517059 Alpha-mannosidosis Dag Malm and Øivind Nilssen PMCID: PMC2515294 Gitelman syndrome Nine VAM Knoers and Elena N Levtchenko PMCID: PMC2518128 Mixed cryoglobulinemia Clodoveo Ferri PMCID: PMC2569912 Centronuclear (myotubular) myopathy Heinz Jungbluth, Carina Wallgren-Pettersson, and Jocelyn Laporte PMCID: PMC2572588 Transposition of the great arteries Paula Martins and Eduardo Castela PMCID: PMC2577629 Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) Julie Desir and Marc Abramowicz PMCID: PMC2576053 The inv dup (15) or idic (15) syndrome (Tetrasomy 15q) Agatino Battaglia PMCID: PMC2613132 Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia Martin J Barron, Sinead T McDonnell, Iain MacKie, and Michael J Dixon PMCID: PMC2600777 Nevoid basal cell carcinoma syndrome (Gorlin syndrome) Lorenzo Lo Muzio PMCID: PMC2607262 |
