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 RESEARCH Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy Leslie Amass, Huihua Li, Balarama K. Gundapaneni, Jeffrey H. Schwartz and Denis J. Keohane Orphanet Journal of Rare Diseases 2018, 13:225 | Published on: 17 December 2018 Full Text | PDF RESEARCH Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin and Jeng-Daw Tsai Orphanet Journal of Rare Diseases 2018, 13:226 | Published on: 17 December 2018 Full Text | PDF REVIEW Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu and Xue Zhang Orphanet Journal of Rare Diseases 2018, 13:224 | Published on: 17 December 2018 Full Text | PDF

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