Anneliene H Jonker,Elena-Alexandra Tataru,David P Dimmock et al.
Anneliene H Jonker et al.
The field of individualized, or N-of-1, therapy development is growing and increasingly gaining attention as a novel option for people with serious diseases, caused by unique genetic variants for whom approved therapies are not available. T...
Access to drugs for rare diseases (DRD) in Canada: a comprehensive review of the provincial DRD-specific programs [0.03%]
加拿大罕见病药物获取途径的全面回顾：各省罕见病药物专门计划分析
Nahya Awada
Nahya Awada
Access to drugs for rare diseases (DRDs) in Canada depends largely on the province of living and the specific disease. The federal government and each of the ten provincial governments have their own drug review processes to determine DRD c...
Navigating gynaecological challenges in Gaucher's disease: insights from five European countries [0.03%]
五个欧洲国家的Gaucher病女性患者面临的妇科挑战及应对经验
Ljubas Dominik,Krstulović Opara Anđela,Wagner Jasenka et al.
Ljubas Dominik et al.
Background: Gaucher's disease (GD), a rare lysosomal storage disorder, primarily affects haematopoietic tissue. Emerging evidence suggests that GD also has an impact on gynaecological well-being, with documented pregnancy...
Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues [0.03%]
Rubinstein-Taybi综合征患者的 pilomatricoma 的诊断和治疗线索
Laura Battaglia,Corrado Ini&#x;,Manuela Lo Bianco et al.
Laura Battaglia et al.
Pilomatricoma is a rare benign neoplasm originating from hair cortex cells and typically manifests in children as a slow-growing bluish-red, superficial and firm mass. Multiple pilomatricomas can be associated with genetic mutations and syn...
The emerging need to manage patient expectations of haemophilia gene therapy amidst media hype in the UK [0.03%]
媒体热议下的英国：管理患者对血友病基因治疗期望的迫切需要
Laurence Woollard,Richard Gorman
Laurence Woollard
Frequent report of vitamin deficiencies and use of supplements and complementary/alternative treatment approaches in patients with eosinophilic gastrointestinal diseases [0.03%]
嗜酸粒细胞胃肠疾病患者中经常报告维生素缺乏以及使用补充剂和补充/替代治疗方案的情况
Brenderia A Cameron,Elizabeth T Jensen,Xiangfeng Dai et al.
Brenderia A Cameron et al.
Background: Eosinophilic gastrointestinal diseases (EGIDs) impact nutrition. Objectives: To assess the frequency of vitamin deficiencie...
Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies [0.03%]
患者领导和合作加速SCN8A和其他发育性癫痫性脑病的疗法发展
Gabrielle Conecker,JayEtta Hecker,Michael F Hammer
Gabrielle Conecker
Families are a driving force in accelerating the understanding and science of SCN8A. The urgency felt by families facing the absence of treatments for their children makes them uniquely positioned to advance therapies through advocacy, data...
Paving the way toward treatment solutions for CTNNB1 syndrome: a patient organization perspective [0.03%]
为CTNNB1综合征的治疗铺平道路：患者组织的观点
Špela Miroševič,Shivang Khandelwal,Emily Amerson et al.
Špela Miroševič et al.
The CTNNB1 Connect & Cure and CTNNB1 Foundation, alongside Asociación CTNNB1, CTNNB1 Italia, Association CTNNB1 France, and researchers and clinicians globally are dedicated to finding effective treatments and cures for CTNNB1 syndrome. Th...
Nirogacestat-the pathway to approval of the first treatment for desmoid tumors, a rare disease [0.03%]
尼罗卡司他：首次批准用于治疗罕见病侵袭性纤维瘤病的治疗方法之路
Shivaani Kummar,Nam Bui,Wells A Messersmith et al.
Shivaani Kummar et al.
Drug development for rare diseases can be long, complex, and costly. Desmoid tumors (DT), a rare type of soft-tissue tumor, are associated with substantial and debilitating burden, including disease-specific symptoms (e.g., pain, impaired m...
Tabish Ali Shalwani,Alishan Khowaja,Narmeen Punjwani
Tabish Ali Shalwani
Behçet's disease is a kind of variable vessel vasculitis (VVV) and inflammatory systematic disease affecting various organs of the body. The cause of the disease is idiopathic but is most commonly genetic in origin. A positive skin prick t...