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Orphanet Journal of Rare Diseases|May 16, 2022
Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter studyTsuyoshi Matsumura, Hiroya Hashimoto, Masahiro Sekimizu, et al.
Orphanet Journal of Rare Diseases|May 17, 2022
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseasesJuan M Suárez-Rivero, Carmen J Pastor-Maldonado, Suleva Povea-Cabello, et al.
Orphanet Journal of Rare Diseases|May 19, 2022
Different electrophysiology patterns in GNE myopathyXiangyi Liu, Yingshuang Zhang, Shuo Zhang, et al.
Orphanet Journal of Rare Diseases|May 26, 2022
Poor education and urgent information need for emergency physicians about rare diseases in ChinaLingli Zhou, Jun Xu, Jing Yang
Orphanet Journal of Rare Diseases|July 1, 2021
A systematic review of moral reasons on orphan drug reimbursementBettina M Zimmermann, Johanna Eichinger, Matthias R Baumgartner
Orphanet Journal of Rare Diseases|July 1, 2021
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrumElvia C Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, et al.
Orphanet Journal of Rare Diseases|May 10, 2022
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countriesMartin Magner, Zsuzsanna Almássy, Zoran Gucev, et al.
Orphanet Journal of Rare Diseases|May 13, 2022
Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published casesGaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, et al.
Orphanet Journal of Rare Diseases|May 13, 2022
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosisAfraah Cassim, Dineshani Hettiarachchi, Vajira H W Dissanayake
Orphanet Journal of Rare Diseases|May 7, 2022
The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosisEnrico Costa, Silvia Girotti, Francesca Pauro, et al.
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