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
Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek C
Orphanet Journal of Rare Diseases 2014, 9 :197 (30 November 2014)
Research
Bhattacharya K, Balasubramaniam S, Choy Y, Fietz M, Fu A, Jin D, Kim O, Kosuga M, Kwun Y, Inwood A, Lin H, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh T, Yang AD, Lin S
Orphanet Journal of Rare Diseases 2014, 9 :192 (30 November 2014)
Research
Grobost V, Khouatra C, Lazor R, Cordier J, Cottin V
Orphanet Journal of Rare Diseases 2014, 9 :191 (30 November 2014)
Research
Charrier C, Rodger C, Robertson J, Kowalczuk A, Shand N, Fraser-Pitt D, Mercer D, O’Neil D
Orphanet Journal of Rare Diseases 2014, 9 :189 (30 November 2014)
Research
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce M, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva M, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado M, del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá COrphanet Journal of Rare Diseases 2014, 9 :187 (30 November 2014)
Review
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, On behalf of the Clinical Management Guidelines Writing Group
Orphanet Journal of Rare Diseases 2014, 9 :184 (30 November 2014)
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