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Orphanet Journal of Rare Diseases|May 9, 2020
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019Tokunbor A Lawal, Emily S Wires, Nancy L Terry, et al.
Orphanet Journal of Rare Diseases|September 4, 2021
Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformationsSarah E Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, et al.
Orphanet Journal of Rare Diseases|August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in AustriaMarion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
Orphanet Journal of Rare Diseases|June 24, 2020
Pathologic substrate of gastropathy in Anderson-Fabry diseaseAlessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, et al.
Orphanet Journal of Rare Diseases|June 14, 2015
A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatmentJonas Mandel, Viviane Bertrand, Philippe Lehert, et al.
Orphanet Journal of Rare Diseases|July 29, 2016
Early pancreatic volume reduction on CT predicts relapse in patients with type 1 autoimmune pancreatitis treated with steroidsYoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, et al.
Orphanet Journal of Rare Diseases|August 27, 2025
Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional studyParvaneh Karimzadeh, Farzad Ahmadabadi, Vahide Zeinali, et al.
Orphanet Journal of Rare Diseases|August 26, 2025
Cutaneous manifestations-associated with tuberous sclerosis complex and the use of topical rapamycin in the United States: a sub-analysis of an international survey of caregivers and patientsSreedevi Boggarapu, Gabrielle Rushing, Ashley Pounders, et al.
Orphanet Journal of Rare Diseases|June 18, 2020
Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International ConferenceKimberly Goodspeed, Geraldine Bliss, Diane Linnehan
Orphanet Journal of Rare Diseases|April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research NetworkKylie Tingley, Monica Lamoureux, Michael Pugliese, et al.
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