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Orphanet Journal of Rare Diseases|August 24, 2018
Dentinogenesis imperfecta type II in Swedish children and adolescentsK Andersson, B Malmgren, E Åström, et al.
Orphanet Journal of Rare Diseases|September 5, 2018
Manual and educational therapy in the treatment of hemophilic arthropathy of the elbow: a randomized pilot studyRubén Cuesta-Barriuso, Antonia Gómez-Conesa, José-Antonio López-Pina
Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Orphanet Journal of Rare Diseases|August 16, 2018
The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysisNannan Gao, Tengyue Zhang, Jiadong Ji, et al.
Orphanet Journal of Rare Diseases|August 17, 2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesityKatherine Y Liu, Jesse D Sengillo, Gabriel Velez, et al.
Orphanet Journal of Rare Diseases|August 18, 2018
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference centerOlga Y Echeverri, Johana M Guevara, Ángela J Espejo-Mojica, et al.
Orphanet Journal of Rare Diseases|September 16, 2016
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicityPanagiotis I Sergouniotis, Stephanie J Barton, Sarah Waller, et al.
Orphanet Journal of Rare Diseases|September 8, 2016
The correlation between HTA recommendations and reimbursement status of orphan drugs in EuropePaweł Kawalec, Anna Sagan, Andrzej Pilc
Orphanet Journal of Rare Diseases|April 27, 2017
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndromeRudolf Schrover, Kathryn Evans, Roberto Giugliani, et al.
Orphanet Journal of Rare Diseases|May 4, 2017
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registryJoseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, et al.
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