Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification [0.03%]
基于变异分层的长效免疫遗传学分析在弗莱特病系统性炎症中的应用
Haylen Marín Gómez,Miguel López-Garrido
Haylen Marín Gómez
Background: Fabry disease is a multisystemic lysosomal disorder caused by mutations in the GLA gene. Although traditionally attributed to lysosomal accumulation of globotriaosylceramide (Gb3), recent evidence suggests a k...
Addressing rare diseases and access to surgical care in Brazil: a call to action [0.03%]
应对巴西罕见病及手术治疗可及性问题：行动呼吁
Ayla Gerk,Letícia Nunes Campos,Luiza Telles et al.
Ayla Gerk et al.
Updated demographics categories to capture the true diversity of an international registry of rare disease patients [0.03%]
更新人口统计类别以捕捉罕见病国际注册患者真正的多样性
Nicole Kressin,Michael E Shy,Tara Jones et al.
Nicole Kressin et al.
Background: NIH requires NIH-funded studies to use historical race and ethnicity categories-originally put forth by the Office of Management and Budget in 1997-for demographics collection. These historical categories were...
Sparsentan in IgA nephropathy: a plain language summary of publication for the PROTECT study [0.03%]
IgA肾病PROTECT研究的通俗解读：斯巴欣治疗IgA肾病的研究发表
Brad H Rovin,Radko Komers,Chris Scroggins et al.
Brad H Rovin et al.
What is this summary about? Sparsentan (FILSPARI®) is a once-daily pill for people with Immunoglobulin A (IgA) nephropathy who are at high risk for worsening kidney disease. Early results from a research study (clinical trial) called PROTE...
Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network [0.03%]
罕见病临床研究中的资助者和患者团体合作的加强及推广——罕见病临床研究网络会议报告
Kristen Wheeden,Sheridan Meyers,Kristin Anthony et al.
Kristen Wheeden et al.
The Rare Diseases Clinical Research Network (RDCRN) works toward faster diagnosis and better treatment for people living with rare diseases, specifically by advancing clinical trial readiness. Inclusion of patient advocacy groups (PAGs) is ...
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions [0.03%]
在电子健康记录中查找埋没的遗传检测结果在各机构的效率低下且具有差异性
Olivia J Veatch,Jomol Mathew,Shira Rockowitz et al.
Olivia J Veatch et al.
Background: The absence of standardized approaches for handling genetic test results in electronic health records (EHRs), combined with a lack of diagnostic codes for most rare disorders, hinders accurate and timely ident...
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...