New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective [0.03%]
从患者的角度分析血红素合成酶障碍的临床试验方案以求新药物治疗之发展
Cornelia Dechant,Sebastian Wäscher,Francesca Granata et al.
Cornelia Dechant et al.
Background: The erythropoietic protoporphyrias (EPP) are a group of ultra-rare (1:100.000) inborn errors of the heme biosynthesis characterised by painful phototoxic reactions in tissue exposed to visible light. Afamelano...
Trigger points of palliative care assessment in inherited metabolic diseases [0.03%]
遗传性代谢疾病姑息治疗评估的要点
Gustavo Marquezani Spolador,Rita Tiziana Verardo Polastrini,Ivete Zoboli et al.
Gustavo Marquezani Spolador et al.
The interaction between palliative care (PC) and inherited metabolic diseases (IMDs) is an area of increasing clinical importance. However, the integration of PC in this field remains limited due to several factors, including a lack of unde...
Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study [0.03%]
Turner综合征患儿心脏表型的单中心队列研究
Feihan Hu,Yirou Wang,Yao Chen et al.
Feihan Hu et al.
Background: Approximately half of the patients with Turner syndrome (TS) have congenital or acquired cardiovascular diseases. The objectives of this study were to improve the early diagnosis of TS and to predict the risk ...
Assessing rare disease understanding: a novel disease readiness level framework [0.03%]
罕见病认知度评估：一种新的疾病准备度框架
Kazuki Kitahara,Shingo Kano
Kazuki Kitahara
Background: Drug development for rare diseases has hurdles against setting high priority because of the size of the market. Although many countries have incentive policies for the development of orphan drugs (drugs used a...
Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS) [0.03%]
利用法国全国罕见病注册系统估计罕见疾病的患病率：TRAPS为例
Adrien Subervie,Inès Elhani,Mathilde Labouret et al.
Adrien Subervie et al.
Background: Rare diseases (RD) have progressively emerged as public health priority in many countries. Epidemiological data are still lacking and the extraction of data from the public health system remains insufficient. ...
Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1 [0.03%]
全国GA-I登记的儿科患者的神经认知特征和学术影响
Zamora-Crespo Berta,Moreno-Ramos Zaida,Martínez de Aragón Ana et al.
Zamora-Crespo Berta et al.
Background: Glutaric Aciduria Type 1 (GA-1) is a rare metabolic disorder characterized by a deficiency in glutaryl-coenzyme A dehydrogenase (GDH), leading to the accumulation of neurotoxic compounds that affect neurodevel...
Observational Study
Orphanet journal of rare diseases. 2025 Dec 29;20(1):632. DOI:10.1186/s13023-025-03668-6 2025
Efficacy and organ protective effects of continuous renal replacement therapy in children with organic acidemia complicated by decompensated acidosis: a retrospective study in PICU [0.03%]
连续性肾脏替代治疗在有机酸血症失代偿酸中毒儿童中疗效及器官保护作用：PICU 病例回顾性研究
Lili Xing,Yueniu Zhu,Lianshu Han et al.
Lili Xing et al.
Background: Metabolic decompensation is life-threatening in children with organic acidemia (OA). This study aims to evaluate the efficacy of continuous renal replacement therapy (CRRT) in treating patients with OA complic...
Using a discrete choice experiments to explore societal preferences for valuing new drugs for rare diseases [0.03%]
运用离散选择实验法探索社会对罕见病新药的价值偏好
Constanza Vargas,Stephen Goodall,Deborah J Street et al.
Constanza Vargas et al.
Background: Rare diseases affect few people, but collectively they affect a substantial proportion of the population. Limited treatment options and the additional challenges of securing public funding make reimbursement d...
Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics [0.03%]
基于整合下一代测序和非靶向代谢组学的Wilson病新生儿生物标志物发现研究
Xianwei Guan,Yun Sun,Yanyun Wang et al.
Xianwei Guan et al.
Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc [0.03%]
17例葡萄糖贮积病IXc型患者的临床和基因分析
Chengkai Sun,Taozi Du,Yu Xia et al.
Chengkai Sun et al.
Background: Glycogen storage disease type IXc (GSD IXc) is an ultra-rare disorder impairing liver glycogen degradation, caused by a defect in phosphorylase kinase (PhK) γ subunit in the liver encoded by PHKG2. We aim to ...