Latest Article Alert from Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Letter to the Editor   Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally Porat S, de Rham M, Giamboni D, Van Mieghem T, Baud DOrphanet Journal of Rare Diseases 2014, 9 :204 (10 December 2014) Abstract | Provisional PDF Research   The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome Sheikhzadeh S, De Backer J, Gorgan N, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D, Bannas P, Keyser B, Mortensen K, Radke RM, Mir TS, Kölbel T, Robinson PN, Schmidtke J, Berger J, Blankenberg S, von Kodolitsch YOrphanet Journal of Rare Diseases 2014, 9 :203 (10 December 2014) Abstract | Provisional PDF Research   Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy Chumakov I, Milet A, Cholet N, Primas G, Boucard A, Pereira Y, Graudens E, Mandel J, Laffaire J, Foucquier J, Glibert F, Bertrand V, Nave K, Sereda MW, Vial E, Guedj M, Hajj R, Nabirotchkin S, Cohen DOrphanet Journal of Rare Diseases 2014, 9 :201 (10 December 2014) Abstract | Provisional PDF Research   Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina M, García-Sandoval B, del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso COrphanet Journal of Rare Diseases 2014, 9 :190 (10 December 2014) Abstract | Provisional PDF Research   Bullous pemphigoid in infants: characteristics, diagnosis and treatment Schwieger-Briel A, Moellmann C, Mattulat B, Schauer F, Kiritsi D, Schmidt E, Sitaru C, Ott H, Kern JSOrphanet Journal of Rare Diseases 2014, 9 :185 (10 December 2014) Abstract | Provisional PDF Research   Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations Matos L, Canals I, Dridi L, Choi Y, Prata M, Jordan P, Desviat LR, Pérez B, Pshezhetsky AV, Grinberg D, Alves S, Vilageliu LOrphanet Journal of Rare Diseases 2014, 9 :180 (10 December 2014) Abstract | Provisional PDF Review   Hajdu-Cheney syndrome: a review Canalis E, Zanotti SOrphanet Journal of Rare Diseases 2014, 9 :200 (10 December 2014) Abstract | Provisional PDF Review   Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry Desplantes C, Fremond M, Beaupain B, Harousseau J, Buzyn A, Pellier I, Roques G, Morville P, Paillard C, Bruneau J, Pinson L, Jeziorski E, Vannier J, Picard C, Bellanger F, Romero N, de Pontual L, Lapillonne H, Lutz P, Chantelot C, Donadieu JOrphanet Journal of Rare Diseases 2014, 9 :183 (10 December 2014) Abstract | Provisional PDF