Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease [0.03%]
艾塞纳弗治疗下法布雷病患者皮肤和脑白质Gb3负荷的自动量化方法研究
Catharina Pfister,Magnus Schindehütte,Christoph Erbacher et al.
Catharina Pfister et al.
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by cellular accumulation of globotriaosylceramide (Gb3). Methods: ...
Elamipretide in pediatric Barth syndrome: from heart failure to school return [0.03%]
巴尔特定症中恩来米肽的应用：从心力衰竭到回归校园
Pascal Amedro,Mathieu Andrianoely,Pauline Gohier et al.
Pascal Amedro et al.
Background: Barth syndrome (BTHS) is a rare X-linked mitochondrial disorder characterized by cardiomyopathy, neutropenia, and skeletal myopathy. Elamipretide is a mitochondria-targeting peptide that stabilizes cardiolipin...
Unraveling the psychological burden of Behçet disease: the impact of anxiety and depression on health-related quality of life outcomes [0.03%]
贝赫切特病的心理负担探究：焦虑和抑郁对健康相关生活质量的影响
Samar Tharwat,Mohamad Nassan,Nasim Jaber et al.
Samar Tharwat et al.
Background: Behçet's disease (BD) is a chronic, inflammatory multisystem disease that has impact both physical health and mental well-being. However, the psychological impact of BD remains underexplored, particularly in ...
Clinical characteristics of tumor-induced osteomalacia lesions in the neurocranium and intracranial structures [0.03%]
肿瘤引起的骨软化症在颅神经和脑结构中的临床特征
Yushuo Wu,Xiang Li,Zhiqin Xu et al.
Yushuo Wu et al.
Background: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by excessive fibroblast growth factor 23 (FGF23) secretion. However, TIO lesions located in the neurocranium (NC) and intracranial (IC)...
Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias [0.03%]
提高对极罕见病的认识可以改善诊断延迟：法国原发性高草酸尿症的例证
Lara Cabezas,Aurélie De Mul,Laurence Derain et al.
Lara Cabezas et al.
Background: Primary hyperoxalurias (PH) are rare recessive autosomal genetic diseases inducing increased hepatic oxalate production. Apart from genetic background, their prognosis depends mainly on diagnosis delay. We rec...
Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group [0.03%]
患者驱动的黏多糖贮积症调查揭示了日本黏多糖贮积症患者及家属协会报告的结果
Toko Shibuya,Takeyuki Akiyama,Tetsuji Fujiyama et al.
Toko Shibuya et al.
Background: Japan Mucopolysaccharidoses (MPS) Patient and Family Group (J-MPS) was founded in 1986. It is the largest patient group for all types of MPS in Japan and now includes some of the patients with lysosomal storag...
Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification [0.03%]
基于ICIMD分类的基因水平评估可治先天性代谢缺陷疾病谱系地图绘制研究
Tabeer Fatima,Jalal Khan,Fatma Al-Jasmi et al.
Tabeer Fatima et al.
Background: Inborn errors of metabolism (IEMs) are among the most clinically actionable groups of rare genetic diseases, yet therapeutic knowledge remains distributed across multiple databases, complicating consistent ide...
Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study [0.03%]
NF1患者中没有其他认知障碍的成人认知功能横断面研究
Daniel Muñoz,Juan Luis Becerra,Elisabeth Castellanos et al.
Daniel Muñoz et al.
Background: Neurofibromatosis type 1 (NF1) is associated with cognitive impairments affecting attention, executive function, memory, visuospatial abilities, and processing speed, which are well described in children and a...
Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism [0.03%]
先天性高胰岛素血症患者的神经发育结局的现实世界见解
Lauren N Lopez,Indraneel Banerjee,Diva D De Leon et al.
Lauren N Lopez et al.
Background: Congenital hyperinsulinism (HI) is a rare condition causing excessive insulin secretion, leading to severe hypoglycemia and high risk of neurological damage. Studies of neurodevelopmental outcomes in HI report...
Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023 [0.03%]
德国苯酮尿症（PKU）患者的医疗照护——2013年至2023年的保险理赔数据分析
Axel Boehnke,Lisa-Marie Müller,Constantin Heidecke et al.
Axel Boehnke et al.
Background: Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong management to prevent neurological, psychiatric, and physical complications. Although early detection through newborn screening h...