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Orphanet Journal of Rare Diseases|August 20, 2015
Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitisAlastair K Denniston, Gary N Holland, Andrej Kidess, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Orphanet Journal of Rare Diseases|November 6, 2015
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosisGauthami Sudhamayee Kondagari, Jessica Louise Fletcher, Rachel Cruz, et al.
Orphanet Journal of Rare Diseases|October 22, 2014
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)Horst von Bernuth, Ethiraj Ravindran, Hang Du, et al.
Orphanet Journal of Rare Diseases|October 24, 2014
Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patientsKonstantin Dimitriadis, Miriam Leonhardt, Patrick Yu-Wai-Man, et al.
Orphanet Journal of Rare Diseases|October 15, 2014
Ovarian teratoma-associated anti-NMDAR encephalitis: a systematic review of reported casesPedro Acién, Maribel Acién, Eva Ruiz-Maciá, et al.
Orphanet Journal of Rare Diseases|August 16, 2014
Follow-up on pediatric patients with bronchiolitis obliterans treated with corticosteroid pulse therapySilvia Onoda Tomikawa, Fabíola Villac Adde, Luiz Vicente Ribeiro Ferreira da Silva Filho, et al.
Orphanet Journal of Rare Diseases|October 26, 2014
Holt Oram syndrome: a registry-based study in EuropeIngeborg Barisic, Ljubica Boban, Ruth Greenlees, et al.
Orphanet Journal of Rare Diseases|December 1, 2014
Cysteamine (Lynovex®), a novel mucoactive antimicrobial & antibiofilm agent for the treatment of cystic fibrosisCedric Charrier, Catherine Rodger, Jennifer Robertson, et al.
Orphanet Journal of Rare Diseases|December 1, 2014
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature reviewEmma L Leach, Michael Shevell, Kristin Bowden, et al.
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