Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases POSITION STATEMENT The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force Noel T Southall, Madhusudan Natarajan, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Benoît Deprez, Tim Guilliams, Lawrence Hunter, Carin MA Rademaker, Virginie Hivert and Diego Ardigò Orphanet Journal of Rare Diseases 2019, 14:225 | Published on: 15 October 2019 Full Text | PDF RESEARCH Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu and Xue Zhang Orphanet Journal of Rare Diseases 2019, 14:223 | Published on: 15 October 2019 Full Text | PDF REVIEW Update on the management of colchicine resistant Familial Mediterranean Fever (FMF) Georges El Hasbani, Ali Jawad and Imad Uthman Orphanet Journal of Rare Diseases 2019, 14:224 | Published on: 15 October 2019 Full Text | PDF

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