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Orphanet Journal of Rare Diseases|October 9, 2020
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosisHedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, et al.
Orphanet Journal of Rare Diseases|October 10, 2020
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literatureAileen Kenneson, Rani H Singh
Orphanet Journal of Rare Diseases|September 30, 2020
Clinical significance of serum anti-granulocyte-macrophage colony-stimulating factor autoantibodies in patients with sarcoidosis and hypersensitivity pneumonitisKanako Katayama, Masaki Hirose, Toru Arai, et al.
Orphanet Journal of Rare Diseases|September 30, 2020
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without MiglustatA Imanishi, T Kawazoe, Y Hamada, et al.
Orphanet Journal of Rare Diseases|April 5, 2020
Dried blood spot versus venous blood sampling for phenylalanine and tyrosineKimber van Vliet, Wiggert G van Ginkel, Esther van Dam, et al.
Orphanet Journal of Rare Diseases|January 12, 2019
Freeman-Burian syndromeMikaela I Poling, Craig R Dufresne, Robert L Chamberlain
Orphanet Journal of Rare Diseases|November 30, 2018
Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?Yvonne Schuller, Marieke Biegstraaten, Carla E M Hollak, et al.
Orphanet Journal of Rare Diseases|November 30, 2018
Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysisJason L Jia, Shiyi Chen, Vishalini Sivarajah, et al.
Orphanet Journal of Rare Diseases|December 19, 2018
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotypePei-Yi Lin, Min-Hua Tseng, Martin Zenker, et al.
Orphanet Journal of Rare Diseases|February 15, 2019
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistanceAdrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, et al.
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