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Orphanet Journal of Rare Diseases|April 16, 2016
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeMeghana Mangatt, Kingsley Wong, Barbara Anderson, et al.
Orphanet Journal of Rare Diseases|April 17, 2016
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthoodBertrand Degos, Yann Nadjar, Maria del Mar Amador, et al.
Orphanet Journal of Rare Diseases|March 18, 2016
The P42 peptide and Peptide-based therapies for Huntington's diseaseCecilia Marelli, Florence Maschat
Orphanet Journal of Rare Diseases|August 22, 2015
Compassionate use of orphan drugsHanna I Hyry, Jeremy Manuel, Timothy M Cox, et al.
Orphanet Journal of Rare Diseases|June 19, 2016
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblastsUrszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, et al.
Orphanet Journal of Rare Diseases|May 1, 2019
Insights into the natural history of metachromatic leukodystrophy from interviews with caregiversMagdalena Harrington, Diane Whalley, James Twiss, et al.
Orphanet Journal of Rare Diseases|May 1, 2019
Demography of vascular Behcet's disease with different gender and age: an investigation with 166 Chinese patientsYong Chen, Jian-Fei Cai, Chen-Hong Lin, et al.
Orphanet Journal of Rare Diseases|September 22, 2018
Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiationNatacha Kadlub, Quentin Sessiecq, Marion Mandavit, et al.
Orphanet Journal of Rare Diseases|September 23, 2018
High hepatic macrophage activation and low liver function in stable Wilson patients - a Danish cross-sectional studyJessica Björklund, Tea Lund Laursen, Thomas Damgaard Sandahl, et al.
Orphanet Journal of Rare Diseases|May 11, 2019
Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patientsRyan S Paquin, Ryan Fischer, Carol Mansfield, et al.
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