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Orphanet Journal of Rare Diseases|April 12, 2020
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendationsPierre-François Pradat, Emilien Bernard, Philippe Corcia, et al.
Orphanet Journal of Rare Diseases|April 21, 2020
Detection of alpha-1 antitrypsin deficiency: the past, present and futureMark Brantly, Michael Campos, Angela M Davis, et al.
Orphanet Journal of Rare Diseases|April 18, 2020
Natural history of non-lethal Raine syndrome during childhoodChiara Mameli, Giulia Zichichi, Nasim Mahmood, et al.
Orphanet Journal of Rare Diseases|September 20, 2021
Potential markers for sample size estimations in hereditary spastic paraplegia type 5Qianqian Lin, Ying Liu, Zhixian Ye, et al.
Orphanet Journal of Rare Diseases|September 15, 2021
Cholbam® and Zellweger spectrum disorders: treatment implementation and managementJanaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, et al.
Orphanet Journal of Rare Diseases|October 23, 2019
Management and outcomes of pneumothorax in adult patients with Langerhans cell HistiocytosisPierre Le Guen, Sylvie Chevret, Emmanuelle Bugnet, et al.
Orphanet Journal of Rare Diseases|October 24, 2019
Analysis of economic burden and its associated factors of twenty-three rare diseases in ShanghaiXiaoshu Cai, Hui Yang, Georgi Z Genchev, et al.
Orphanet Journal of Rare Diseases|October 24, 2019
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndromeJulia Han, Terry Jo Bichell, Stephanie Golden, et al.
Orphanet Journal of Rare Diseases|June 12, 2015
Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathwaysWenping Cai, Beizhan Jiang, Tienan Feng, et al.
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