Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate [0.03%]
尿素循环晚期发病缺陷的预防性治疗：甘油苯丁酸酯的临床视角
Marco Spada,Francesco Porta
Marco Spada
Background: Later-onset urea cycle disorders (UCD) are characterized by variable clinical presentation and unpredictable metabolic decompensation. Current management often relies on a reactive approach, with treatment ini...
XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay [0.03%]
XLA-MTS：一种具有免疫缺陷和神经发育迟缓特征的临床遗传实体
Ignacio Ventura,Francisco Revert-Ros,Fernando Revert et al.
Ignacio Ventura et al.
Background: Mohr-Tranebjærg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder, typically presenting with progressive sensorineural hearing loss in early childhood, followed by neurological deteriorat...
Camila Simoes,María Fernanda Domínguez,Soledad Rodriguez et al.
Camila Simoes et al.
Background: Rare diseases (RDs) affect an estimated 7% of the global population and comprise ~7,000 heterogeneous conditions, most of which have a genetic etiology. Despite their collective burden, RDs pose major diagnost...
Transition from pediatric to adult neurology care in Duchenne muscular dystrophy: a national survey of patient and physician experiences [0.03%]
杜氏肌营养不良从儿科到成人神经学护理过渡的全国调查：患者和医生的经历
Gulcin Akinci,Eray Ontas,Hacer Durmus et al.
Gulcin Akinci et al.
Background: Effective transition from pediatric to adult care is essential in Duchenne muscular dystrophy (DMD), but evidence on how transition is delivered in everyday practice remains limited. In Turkey, no clinical fra...
Karyotype-specific cardiovascular and metabolic profiles in Turner syndrome: a retrospective echocardiographic study [0.03%]
特纳综合征的染色体核型特异性心血管和代谢特征：一项回顾性超声心动图研究
Yinchun Huang,Song Luo,Yiying Qi et al.
Yinchun Huang et al.
Background: Turner syndrome (TS) is associated with cardiovascular abnormalities and metabolic risk, but karyotype-specific phenotypes remain incompletely defined, particularly in pediatric and adolescent cohorts assessed...
Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China [0.03%]
中国VEXAS综合征的临床特征及筛查工具：病例对照研究
Menghui Yao,Min Shen,Chengjin Huang et al.
Menghui Yao et al.
Background: VEXAS syndrome is a severe autoinflammatory disease characterized by systemic inflammation, rheumatic manifestations, and hematologic abnormalities. Its clinical heterogeneity and overlap with other conditions...
The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases [0.03%]
食欲激素与中毒型代谢病儿童体质指数的关系
Nevra Koç,Dilara Berşan Konyalıgil,Burcu Özen Yeşil et al.
Nevra Koç et al.
Background: The aim of this study is to comparatively examine the effects of appetite loss and insufficient energy intake, which trigger poor metabolic control parameters, on appetite hormones and body mass index in child...
Survival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis [0.03%]
I型神经纤维瘤病相关恶性外周神经鞘肿瘤的生存和预后：系统评价和meta分析
Mette Møller Handrup,Ninna Aggerholm-Pedersen,Stine Bogetofte Thomasen et al.
Mette Møller Handrup et al.
Background: Malignant peripheral nerve sheath tumour (MPNST) is a rare, aggressive sarcoma with high mortality. MPNST can develop sporadically, after radiation therapy or in association with neurofibromatosis type 1 (NF1)...
Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study [0.03%]
肌营养不良症患者临床试验准备的障碍探索：一项混合方法研究
Julia Stellmann Wrenn,Ali Ryan-Mosley,Jonah Watt et al.
Julia Stellmann Wrenn et al.
Myotonic dystrophy (DM) is a multisystemic disorder characterized by significant heterogeneity in symptom manifestation, progression, and severity. This variability complicates clinical trial design and implementation, thereby affecting the...
Co-development of a genetic care pathway for ALS: real-world perspectives from the North of England [0.03%]
英格兰北部ALS遗传护理路径的联合开发：真实世界的观点
Clementine Wood,Georgia Brown,Kirsten Chalk et al.
Clementine Wood et al.
Background: Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disorder, with a substantial proportion of cases attributed to genetic factors. Recent advances in gene discovery and genomic techno...