Anna C Pfalzer,Blake Ivers,Alayna Haynam et al.
Anna C Pfalzer et al.
The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this a...
The role of the TSC Alliance in advancing therapy development: a patient organization perspective [0.03%]
TSC联盟在促进疗法开发方面的角色：患者组织的视角
Steven L Roberds,Zoë Fuchs,Elizabeth M Cassidy et al.
Steven L Roberds et al.
Tuberous sclerosis complex (TSC) is a genetic disease leading to malformations, or tubers, in the cerebral cortex and growth of tumors, most frequently in the brain, heart, kidneys, skin, and lungs. Changes in the brain caused by TSC usuall...
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome [0.03%]
患者组织视角：Okur-Chung神经发育综合征的研究路线图
Gabrielle V Rushing,Jennifer Sills
Gabrielle V Rushing
Okur-Chung neurodevelopmental syndrome (OCNDS) is an ultra-rare disorder caused by variants in the CSNK2A1 gene. CSNK2A1 encodes for the alpha subunit of casein kinase 2 (CK2), a serine/threonine kinase critical in neural development. CK2 i...
Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials [0.03%]
以患者和倡导者为主导的全球联盟正在根据实际情况调整结局衡量指标，以确保临床上对DEE患者的有意义的包容性
JayEtta Hecker,Gabrielle Conecker,Chere Chapman et al.
JayEtta Hecker et al.
Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of inte...
Corrigendum to "Proceedings from the MENA Congress for Rare Diseases, 16-19 May 2024, Abu Dhabi, UAE" [0.03%]
“2024年5月16-19日，阿联酋阿布扎比中东和北非罕见病大会会议记录”的勘误表
[This corrects the article DOI: 10.1177/26330040241238936.]. © The Author(s), 2024.
STXBP1: fast-forward to a brighter future - a patient organization perspective [0.03%]
STXBP1：加速走向更光明的未来——患者组织视角
James R Goss,Benjamin Prosser,Ingo Helbig et al.
James R Goss et al.
Syntaxin-binding protein 1 related disorder (STXBP1-RD) is a rare neurologic disorder associated with global neurodevelopmental delay, intellectual disability, early-onset epilepsy, motor abnormalities, and autism. The underlying pathophysi...
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment [0.03%]
癫痫和过度生长-智力障碍综合征：关于合作以加速治疗途径的患者组织观点
Kerry Grens,Kit M Church,Eric Diehl et al.
Kerry Grens et al.
Overgrowth-intellectual disability (OGID) syndromes are a collection of rare genetic disorders with overlapping clinical profiles. In addition to the cardinal features of general overgrowth (height and/or head circumference at least two sta...
Five cases of pulmonary Aspergillus nodules diagnosed at surgery and by pathology in immunocompetent patients, with a literature review [0.03%]
免疫功能正常的患者的5例肺曲霉球的外科和病理诊断以及文献回顾
Shuangxia Dong,Fengxiang Wang,Haizhen Jin et al.
Shuangxia Dong et al.
A pulmonary Aspergillus nodule is a rare subtype of chronic pulmonary aspergillosis. The diagnosis is difficult and is histological. There are only a few reports on such cases. Here, we report five cases of pulmonary Aspergillus nodules con...
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions [0.03%]
Angelman综合征和dup15q数据扩展研究链接（LADDER）数据库：罕见病研究、临床指导和治疗开发的模式
Sarah Nelson Potter,Elizabeth Reynolds,Katherine C Okoniewski et al.
Sarah Nelson Potter et al.
Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g. intellectual dis...
Corrigendum to "The Rare Diseases Clinical Research Network: a model for clinical trial readiness" [0.03%]
罕见疾病临床研究网络：提高临床试验能力的典范（勘误）
[This corrects the article DOI: 10.1177/26330040231219272.]. © The Author(s), 2024.