Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025) [0.03%]
遗传性免疫缺陷全球研究格局的文献计量学分析（1991-2025年）
Qibin Wu,Jingxian Gao,Yinglin Yuan et al.
Qibin Wu et al.
Background: Inborn errors of immunity (IEI), though individually rare, collectively represent a significant disease burden. From 1980 to 2024, classified IEI disorders expanded from dozens to 559 entities, reflecting adva...
Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit [0.03%]
带有突变丙酰辅酶a羧化酶α亚基的异源体人诱导多能干细胞系的生成
Tianqi Tao,Liwen Lin,Yanyan Tang et al.
Tianqi Tao et al.
Background: Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by defects in propionyl-CoA carboxylase (PCC), a mitochondrial enzyme composed of six alpha (PCCA) and six beta (PCCB) subunits. ...
Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease [0.03%]
NAD(P)HX代谢修复系统缺陷症：一种可治疗的线粒体疾病
Chaolong Xu,Hong Jin,Jiuwei Li et al.
Chaolong Xu et al.
Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action [0.03%]
希腊成人脊髓性肌萎缩患者就诊路径地图：亟待解决的问题及应对策略
Christina Golna,Chara Tzavara,Christiana Vasileiadi et al.
Christina Golna et al.
Background: Spinal Muscular Atrophy (SMA) carries a heavy burden for patients and caregivers, which, in Greece, is exacerbated by resource constraints and limited care integration. To-date, there were only anecdotal descr...
Defining Bayley Scales of Infant and Toddler Development Third Edition (BSITD-III) meaningful change and item relevance in children with neuronopathic MPS II: a caregiver interview-based study [0.03%]
基于照料者访谈的III型粘多糖贮积症患儿Bayley-III评测变化值及评分项目相关性研究
Dawn Phillips,Catherine Wilson,Vivian Fernandez
Dawn Phillips
Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease [0.03%]
针对问卷可改善法布雷病患儿早期胃肠道症状的检测率
Anika Quillin,Hannah Waddel,Gwen Gunn et al.
Anika Quillin et al.
Background: Fabry disease (FD) is a multisystemic, progressive, X-linked genetic disorder caused by dysfunction of the enzyme α-galactosidase A. Symptoms commonly present in childhood in classic patients. Prior studies i...
Optimizing recruitment in rare disease research: a cross-sectional online study evaluating sampling strategies for hard-to-reach populations [0.03%]
罕见病研究中优化招募：一项横断面在线研究，评估难以触及人群的研究抽样策略
Shalice Baffour,Bernd Löwe,Annika Braun et al.
Shalice Baffour et al.
Inês Alves,Svein Otto Fredwall,Michael Hughes et al.
Inês Alves et al.
Achondroplasia is the most common form of short-limbed short stature of genetic origin. Most people with achondroplasia live fully independent, productive, and socially engaged lives. However, the condition is associated with several potent...
Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis [0.03%]
基于约束的代谢模型在戈谢病中的应用：线粒体功能障碍和胆固醇稳态失调
Yanjun Liu,Xi Luo,Samira Ranjbar et al.
Yanjun Liu et al.
CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis [0.03%]
多组学方法鉴定的CCL14作为淋巴管肌瘤病严重程度和进展的新指标
Wenxue Bai,Lijuan Hua,Xuezhao Wang et al.
Wenxue Bai et al.
Background: Lymphangioleiomyomatosis (LAM) is a rare, multisystemic metastatic disease. Chemokines are implicated in promoting LAM cell migration and tumor progression. Our prior plasma proteomics identified elevated C-C ...