Orphanet Journal of Rare Diseases

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.

Research   Phenotypic and molecular insights into CASK-related disorders in males Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche KOrphanet Journal of Rare Diseases 2015, 10 :44 (12 April 2015) Abstract | Provisional PDF Research   Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study Guffon N, Heron B, Chabrol B, Feillet F, Montauban V, Valayannopoulos VOrphanet Journal of Rare Diseases 2015, 10 :43 (12 April 2015) Abstract | Provisional PDF Research   Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome Pal A, Langereis EJ, Saif MA, Mercer J, Church HJ, Tylee KL, Wynn RF, Wijburg FA, Jones SA, Bruce IA, Bigger BWOrphanet Journal of Rare Diseases 2015, 10 :42 (10 April 2015) Abstract | Provisional PDF