A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases [0.03%]
运动训练在糖原贮积病中有效性的系统性综述研究
Claire Bordoli,Elaine Murphy,Ian Varley et al.
Claire Bordoli et al.
Introduction: Glycogen storage diseases (GSDs) are rare inborn errors of carbohydrate metabolism typically with skeletal muscle and liver involvement. In those with skeletal muscle involvement, the majority display sympto...
What are the benefits of the anti-FGF23 antibody burosumab on the manifestations of X-linked hypophosphatemia in adults in comparison with conventional therapy? A review [0.03%]
布罗舒马肽与常规治疗成人X连锁低磷血症临床表现的改善：系统综述
Marie-Hélène Lafage-Proust
Marie-Hélène Lafage-Proust
X-linked hypophosphatemia (XLH) is a genetic disease mostly related to PHEX gene mutations which increases FGF23 serum levels, leading to hypophosphatemia and osteomalacia in adults, while affected children, in addition, develop rickets. Mo...
Building cross-border collaborations to increase diversity and accelerate rare disease drug development - meeting report from the inaugural IndoUSrare Annual Conference 2021 [0.03%]
建立跨境合作以增加多样性并加速罕见病药物研发的进展——首届印美罕见疾病大会年度会议报告
Harvinder Kour Khera,Nisha Venugopal,Ramya T Karur et al.
Harvinder Kour Khera et al.
The inaugural IndoUSrare Annual Conference was held virtually from 29 November to 2 December 2021 and was organized by the Indo US Organization for Rare Diseases (IndoUSrare). The event saw participation from over 250 stakeholders of rare d...
Future of genetic therapies for rare genetic diseases: what to expect for the next 15 years? [0.03%]
罕见遗传疾病的基因疗法前景：未来15年会发生什么？
Luiza Amara Maciel Braga,Carlos Gilbert Conte Filho,Fabio Batista Mota
Luiza Amara Maciel Braga
Introduction: Rare genetic diseases affect millions of people worldwide. Most of them are caused by defective genes that impair quality of life and can lead to premature death. As genetic therapies aim to fix or replace d...
Impact of the Covid-19 epidemic on a US sample of patients with myasthenia gravis [0.03%]
美国重症肌无力患者样本中COVID-19大流行的影响
Gloria Gutierrez,Helen Girma,Pierce Kuhnell et al.
Gloria Gutierrez et al.
Introduction: The Covid-19 pandemic has devastated the world and demonstrated the inadequacy of health care in the United States. To assess its impact, the Rare Disease Clinical Research Network conducted a survey to asse...