| | Case 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 Orphanet J Rare Dis. 2008; 3: 2. Published online 2008 January 30. doi: 10.1186/1750-1172-3-2.PMCID: PMC2262878 Abetalipoproteinemia: two case reports and literature review Rola Zamel, Razi Khan, Rebecca L Pollex, and Robert A Hegele Orphanet J Rare Dis. 2008; 3: 19. Published online 2008 July 8. doi: 10.1186/1750-1172-3-19.PMCID: PMC2467409 Commentary Monitoring clinical quality in rare disease services – experience in England Thomas D Kenny, Edmund G Jessop, and William H Gutteridge Orphanet J Rare Dis. 2008; 3: 23. Published online 2008 September 15. doi: 10.1186/1750-1172-3-23.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 Orphanet J Rare Dis. 2008; 3: 24. Published online 2008 September 16. doi: 10.1186/1750-1172-3-24.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 Orphanet J Rare Dis. 2008; 3: 29. Published online 2008 November 13. doi: 10.1186/1750-1172-3-29.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 Orphanet J Rare Dis. 2008; 3: 33. Published online 2008 December 16. doi: 10.1186/1750-1172-3-33.PMCID: PMC2631478 Reviews Primary biliary cirrhosis Teru Kumagi and E Jenny Heathcote Orphanet J Rare Dis. 2008; 3: 1. Published online 2008 January 23. doi: 10.1186/1750-1172-3-1.PMCID: PMC2266722 Multiple osteochondromas Judith VMG Bovée Orphanet J Rare Dis. 2008; 3: 3. Published online 2008 February 13. doi: 10.1186/1750-1172-3-3.PMCID: PMC2276198 Monosomy 18p Catherine Turleau Orphanet J Rare Dis. 2008; 3: 4. Published online 2008 February 19. doi: 10.1186/1750-1172-3-4.PMCID: PMC2265258 Primary intestinal lymphangiectasia (Waldmann's disease) Stéphane Vignes and Jérôme Bellanger Orphanet J Rare Dis. 2008; 3: 5. Published online 2008 February 22. doi: 10.1186/1750-1172-3-5.PMCID: PMC2288596 Syndromic (phenotypic) diarrhea in early infancy Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, and Jean-Pierre Cézard Orphanet J Rare Dis. 2008; 3: 6. Published online 2008 February 28. doi: 10.1186/1750-1172-3-6.PMCID: PMC2279108 Hereditary sensory neuropathy type I Michaela Auer-Grumbach Orphanet J Rare Dis. 2008; 3: 7. Published online 2008 March 18. doi: 10.1186/1750-1172-3-7.PMCID: PMC2311280 Idiopathic pulmonary fibrosis Eric B Meltzer and Paul W Noble Orphanet J Rare Dis. 2008; 3: 8. Published online 2008 March 26. doi: 10.1186/1750-1172-3-8.PMCID: PMC2330030 Brown-Vialetto-Van Laere syndrome Sivakumar Sathasivam Orphanet J Rare Dis. 2008; 3: 9. Published online 2008 April 17. doi: 10.1186/1750-1172-3-9.PMCID: PMC2346457 The Greig cephalopolysyndactyly syndrome Leslie G Biesecker Orphanet J Rare Dis. 2008; 3: 10. Published online 2008 April 24. doi: 10.1186/1750-1172-3-10.PMCID: PMC2397380 Adaptive design methods in clinical trials – a review Shein-Chung Chow and Mark Chang Orphanet J Rare Dis. 2008; 3: 11. Published online 2008 May 2. doi: 10.1186/1750-1172-3-11.PMCID: PMC2422839 McCune-Albright syndrome Claudia E Dumitrescu and Michael T Collins Orphanet J Rare Dis. 2008; 3: 12. Published online 2008 May 19. doi: 10.1186/1750-1172-3-12.PMCID: PMC2459161 Leopard syndrome Anna Sarkozy, Maria Cristina Digilio, and Bruno Dallapiccola Orphanet J Rare Dis. 2008; 3: 13. Published online 2008 May 27. doi: 10.1186/1750-1172-3-13.PMCID: PMC2467408 Deletion 22q13.3 syndrome Mary C Phelan Orphanet J Rare Dis. 2008; 3: 14. Published online 2008 May 27. doi: 10.1186/1750-1172-3-14.PMCID: PMC2427010 Brachydactyly Samia A Temtamy and Mona S Aglan Orphanet J Rare Dis. 2008; 3: 15. Published online 2008 June 13. doi: 10.1186/1750-1172-3-15.PMCID: PMC2441618 Hereditary alpha-1-antitrypsin deficiency and its clinical consequences Laura Fregonese and Jan Stolk Orphanet J Rare Dis. 2008; 3: 16. Published online 2008 June 19. doi: 10.1186/1750-1172-3-16.PMCID: PMC2441617 Acromegaly Philippe Chanson and Sylvie Salenave Orphanet J Rare Dis. 2008; 3: 17. Published online 2008 June 25. doi: 10.1186/1750-1172-3-17.PMCID: PMC2459162 Congenital long QT syndrome Lia Crotti, Giuseppe Celano, Federica Dagradi, and Peter J Schwartz Orphanet J Rare Dis. 2008; 3: 18. Published online 2008 July 7. doi: 10.1186/1750-1172-3-18.PMCID: PMC2474834 Cluster headache Elizabeth Leroux and Anne Ducros Orphanet J Rare Dis. 2008; 3: 20. Published online 2008 July 23. doi: 10.1186/1750-1172-3-20.PMCID: PMC2517059 Alpha-mannosidosis Dag Malm and Øivind Nilssen Orphanet J Rare Dis. 2008; 3: 21. Published online 2008 July 23. doi: 10.1186/1750-1172-3-21.PMCID: PMC2515294 Gitelman syndrome Nine VAM Knoers and Elena N Levtchenko Orphanet J Rare Dis. 2008; 3: 22. Published online 2008 July 30. doi: 10.1186/1750-1172-3-22.PMCID: PMC2518128 Mixed cryoglobulinemia Clodoveo Ferri Orphanet J Rare Dis. 2008; 3: 25. Published online 2008 September 16. doi: 10.1186/1750-1172-3-25.PMCID: PMC2569912 Centronuclear (myotubular) myopathy Heinz Jungbluth, Carina Wallgren-Pettersson, and Jocelyn Laporte Orphanet J Rare Dis. 2008; 3: 26. Published online 2008 September 25. doi: 10.1186/1750-1172-3-26.PMCID: PMC2572588 Transposition of the great arteries Paula Martins and Eduardo Castela Orphanet J Rare Dis. 2008; 3: 27. Published online 2008 October 13. doi: 10.1186/1750-1172-3-27.PMCID: PMC2577629 Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) Julie Desir and Marc Abramowicz Orphanet J Rare Dis. 2008; 3: 28. Published online 2008 October 15. doi: 10.1186/1750-1172-3-28.PMCID: PMC2576053 The inv dup (15) or idic (15) syndrome (Tetrasomy 15q) Agatino Battaglia Orphanet J Rare Dis. 2008; 3: 30. Published online 2008 November 19. doi: 10.1186/1750-1172-3-30.PMCID: PMC2613132 Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia Martin J Barron, Sinead T McDonnell, Iain MacKie, and Michael J Dixon Orphanet J Rare Dis. 2008; 3: 31. Published online 2008 November 20. doi: 10.1186/1750-1172-3-31.PMCID: PMC2600777 Nevoid basal cell carcinoma syndrome (Gorlin syndrome) Lorenzo Lo Muzio Orphanet J Rare Dis. 2008; 3: 32. Published online 2008 November 25. doi: 10.1186/1750-1172-3-32.PMCID: PMC2607262 Malignant mesothelioma Alastair J Moore, Robert J Parker, and John Wiggins Orphanet J Rare Dis. 2008; 3: 34. Published online 2008 December 19. doi: 10.1186/1750-1172-3-34.PMCID: PMC2652430 |