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Orphanet Journal of Rare Diseases|September 16, 2020
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosisZefu Chen, Zihui Yan, Chenxi Yu, et al.
Orphanet Journal of Rare Diseases|September 22, 2020
Guidelines for diagnosis and management of congenital central hypoventilation syndromeHa Trang, Martin Samuels, Isabella Ceccherini, et al.
Orphanet Journal of Rare Diseases|September 23, 2020
The natural course of hereditary angioedema in a Chinese cohortYang Cao, Shuang Liu, Yuxiang Zhi
Orphanet Journal of Rare Diseases|December 5, 2019
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosisQing-Qing Tao, Yun Zhang, Hui-Xia Lin, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Orphanet Journal of Rare Diseases|January 9, 2020
Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literatureOlivier Dupuis, Laura Delagrange, Sophie Dupuis-Girod
Orphanet Journal of Rare Diseases|December 28, 2019
Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working groupEleonora Gaetani, Fabiana Agostini, Angelo Porfidia, et al.
Orphanet Journal of Rare Diseases|January 16, 2020
Out-of-pocket expenses for myasthenia gravis patients in China: a study on patients insured by basic medical insurance in China, 2013-2015Tao-Yu Lin, Xiao-Yan Zhang, Peng-Qian Fang, et al.
Orphanet Journal of Rare Diseases|January 15, 2020
Rare diseases in Chile: challenges and recommendations in universal health coverage contextGonzalo Encina, Carla Castillo-Laborde, Juan A Lecaros, et al.
Orphanet Journal of Rare Diseases|January 15, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe diseaseJorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, et al.
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