A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation [0.03%]
832例卡氏肺囊肿患者的生存期汇集分析：临床表现及并存疾病的生命周期特征分析
Xiao Cheng,Chao Meng,Lirong Nie et al.
Xiao Cheng et al.
Background: Congenital pulmonary airway malformation (CPAM) is a rare pulmonary developmental anomaly with heterogeneous clinical manifestations and associated comorbidities. While often diagnosed prenatally, its lifelong...
Mortality trends and socioeconomic inequalities in sickle cell disease in Colombia, 2012-2023: a population-based study [0.03%]
2012-2023年哥伦比亚镰状细胞病死亡趋势及社会经济不平等的队列研究
Uriel Palacios-Barahona,Juan Felipe Combariza
Uriel Palacios-Barahona
Background: Sickle cell disease (SCD) is one of the most common monogenic disorders worldwide and remains associated with substantial mortality in low- and middle-income countries. In Colombia, population-level evidence o...
Mitochondrial stress markers associate with phenotypic variability in Fabry disease [0.03%]
线粒体压力标志物与法布雷病表型变异性的关联性研究
Lucia Lavalle,Hibba Kurdi,David Moreno Martinez et al.
Lucia Lavalle et al.
Background: Fabry disease (FD) exhibits marked clinical heterogeneity that cannot be fully explained by residual α-galactosidase A activity. Mitochondrial dysfunction has been reported in FD, but the role of mitochondria...
Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy [0.03%]
肺动脉瓣狭窄的小鼠模型中Vegfc的体内过度表达增强静脉血管生成以改善右心功能
Amira Bousbaa,Ivanna Fedoryshchenko,Ilse Luyckx et al.
Amira Bousbaa et al.
Background: Loeys-Dietz syndrome (LDS) is a rare multisystemic connective tissue disorder characterized by aggressive aortopathy, skeletal, craniofacial, cutaneous and gastrointestinal manifestations. It is caused by path...
Fatigue and pain in children with multiple osteochondromas: a cross-sectional study [0.03%]
儿童多发性骨软骨瘤的疲劳和疼痛：横断面研究
Ihsane Amajjar,Nienke W Willigenburg,Rob J E M Smeets et al.
Ihsane Amajjar et al.
Background: Multiple osteochondromas (MO) is a rare, inherited disorder characterized by multiple benign bone tumors. Although pain and fatigue are commonly encountered in clinical practice, their impact on children with ...
Health service access and delivery for people living with rare disorders: a scoping review [0.03%]
罕见病患者的服务利用与交付：系统综述
Tara N Officer,Michael Roguski,Lucy Bennett et al.
Tara N Officer et al.
Background: Rare disorders contribute significant collective health system costs; individuals living with rare disorders frequently encounter diagnostic, treatment, and management barriers. Despite international recogniti...
Management of pregnancy in women with rare multisystemic vascular diseases: a qualitative survey analysis [0.03%]
罕见多系统血管病女性患者的妊娠管理：定性调查分析
Gloria Somalo-Barranco,Alexandra Benachi,Laurence M Boon et al.
Gloria Somalo-Barranco et al.
Background: Pregnancy in women with rare vascular diseases is highly challenging, as it can be associated with significant maternal and foetal risks, requiring complex and multidisciplinary management. Care across countri...
Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing [0.03%]
全外显子组测序指导的46,XY性发育 disorder诊断的优化研究
Ewa Błaszczyk,Małgorzata Więcek,Aleksandra Jazela-Stanek et al.
Ewa Błaszczyk et al.
Introduction: Differences in sex development (DSD) with 46,XY karyotype are a group of rare congenital conditions affecting the structure and function of the urogenital system. Published data indicate, that despite the in...
Proteomics-based approach reveals the involvement of spliceosomal components SF3B and SerpinB9 in dermatofibrosarcoma protuberans [0.03%]
基于蛋白质组学的方法揭示了剪接体成分SF3B和SerpinB9在皮肤纤维肉瘤中的作用
Yang Xie,Haifeng Li,Tian Liu et al.
Yang Xie et al.
Background: Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous soft tissue sarcoma which is prone to high recurrence rate, and the fibrosarcomatous transformation of DFSP (FS-DFSP) is associated with a poorer prog...
Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic [0.03%]
阿洛索福辛α长期随访及对捷克一中心黏多糖贮积症IVA型患者的效果反应
Robert Šáhó,Lenka Murgašová,Markéta Tesařová et al.
Robert Šáhó et al.
Background: Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disease primarily characterized by severe skeletal dysplasia. Clinical and laboratory data, including treatment response...