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Orphanet Journal of Rare Diseases|March 8, 2017
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label studyMartje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, et al.Orphanet Journal of Rare Diseases|February 28, 2017
"It's not all in my head!" - The complex relationship between rare diseases and mental health problemsRebecca NunnOrphanet Journal of Rare Diseases|March 1, 2017
Yellow nail syndrome: a reviewStéphane Vignes, Robert BaranOrphanet Journal of Rare Diseases|February 18, 2017
Are products with an orphan designation for oncology indications different from products for other rare indications? A retrospective analysis of European orphan designations granted between 2002-2012Kim Pauwels, Isabelle Huys, Minne Casteels, et al.Orphanet Journal of Rare Diseases|February 22, 2017
A new framework for evaluating the health impacts of treatment for Gaucher disease type 1Michael L Ganz, Sean Stern, Alex Ward, et al.Orphanet Journal of Rare Diseases|February 23, 2017
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian familyYock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, et al.Orphanet Journal of Rare Diseases|October 9, 2016
DNA ligase IV syndrome; a reviewThomas Altmann, Andrew R GenneryOrphanet Journal of Rare Diseases|January 7, 2017
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patientsJohn C Kingswood, Guillaume B d'Augères, Elena Belousova, et al.Orphanet Journal of Rare Diseases|December 9, 2016
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literatureSteven T Merrill, Gary R Nelson, Nicola Longo, et al.Orphanet Journal of Rare Diseases|November 23, 2016
An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS RegistryLen Woodward, Sally Johnson, Johan Vande Walle, et al.Pageof 471