Methodological challenges in Dutch HTA of non-oncological orphan drugs: a retrospective analysis and price comparison using different pricing models [0.03%]
荷兰非肿瘤罕见病药物卫生技术评估中的方法挑战：回顾性分析及不同定价模型下的价格比较
Jelle Walraven,Mahtab Kaveh,Carin Uyl-de Groot
Jelle Walraven
Caregiver-reported disease burden in Krabbe disease: evaluating outcomes of hematopoietic stem cell transplantation [0.03%]
Krabbe病的照护者报告疾病负担：评估造血干细胞移植的效果
Nicholas Alexander Bascou,Skyler Jackson,Patti Engel et al.
Nicholas Alexander Bascou et al.
Clinical and genetic spectrum of pediatric mitochondrial disorders in china: insights from a 47-case genetically confirmed cohort [0.03%]
中国儿童线粒体病的临床和遗传谱系：来自47例基因确诊队列的启示
Fan Yang,Ruen Yao,Guoying Chang et al.
Fan Yang et al.
Burosumab in infants with X-linked hypophosphatemic rickets: a case series [0.03%]
布罗舒马斯特治疗X连锁低磷性佝偻病婴儿的病例报告系列研究
Ravit Regev,Avivit Brener,Nitzan Dror et al.
Ravit Regev et al.
Ineka T Whiteman,Anthony L Cook,Erika F Augustine et al.
Ineka T Whiteman et al.
Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study [0.03%]
酸性鞘磷脂酶缺乏患者接受静脉注射海藻糖治疗后的代谢改善：一项未靶向药物代谢组学研究
Mahdieh Khoshakhlagh,Maede Hasanpour,Mehrdad Iranshahi et al.
Mahdieh Khoshakhlagh et al.
Pinar Ozmizrak,Luigi Boccuto,Tracy Brock Lowe et al.
Pinar Ozmizrak et al.
Introduction: Rare genetic diseases are, collectively, not in fact rare. However, educational opportunities focused on rare genetic disease can be limited. The Internet has increased the availability of education related ...
Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey [0.03%]
波兰天使人综合症患者的家庭经济负担调查研究
Dariusz Walkowiak,Karolina Pospieszyńska-Martysiuk,Hanna Dianow et al.
Dariusz Walkowiak et al.
Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [0.03%]
Alström综合征：对中国127例患者的横断面及随访研究，强调其遗传变异谱系和心脏特征
Yiguo Huang,Libo Wang,Qianwen Zhang et al.
Yiguo Huang et al.
Background: Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, card...
Genome-wide association for sarcoidosis identifies novel risk loci and genetic heritability in African and European ancestries: a meta-analysis from the Finngen, Million Veteran Program, UK Biobank, and Biobank Japan datasets [0.03%]
针对撒卡伊病的全基因组关联分析在非洲血统和欧洲血统中鉴定出新的风险位点和遗传遗传率：来自Finngen、百万人队列计划、英国生物银行和日本生物银行数据集的元分析
Andrea Ricci,Federica Andolfi,Daniele Sabbatini et al.
Andrea Ricci et al.
Introduction: Sarcoidosis is an inflammatory disease driven by immune-mediated mechanisms, characterized by the formation of epithelioid cell granulomas and a wide range of clinical manifestations. Its phenotype is the re...