Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome [0.03%]
Ehlers-Danlos综合征新发诊断后患者及家长的知识、理解与担忧
Jordan T Jones,Lora L Black,William R Black
Jordan T Jones
Introduction: After diagnosis of Ehlers Danlos Syndrome (EDS), it is unclear what information patients and parents need and understand about EDS. The objective of this study is to characterize patient and parent knowledge...
Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review [0.03%]
奥马伏洛酮与安慰剂治疗16岁以上弗里德赖希共济失调患者的疗效和安全性的系统综述
Ankita Umrao,Monika Pahuja,Nabendu Sekhar Chatterjee
Ankita Umrao
Background: Friedreich's ataxia (FA) is a rare genetic disorder caused by silencing of the frataxin gene (FXN), which leads to multiorgan damage. Nrf2 is a regulator of FXN, which is a modulator of oxidative stress in ani...
Two-year follow-up after drug desensitization in mucopolysaccharidosis [0.03%]
口服酶替代治疗后进行药物脱敏两年的随访研究黏多糖贮积症患者
Federico Spataro,Roberto Ria,Nada Chaoul et al.
Federico Spataro et al.
Background: Mucopolysaccharidosis (MPS) type 1 S and type 2 are rare lysosomal storage disorders characterized by impaired enzyme production, resulting in glycosaminoglycans accumulation within lysosomes. Enzyme Replaceme...
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease [0.03%]
酶替代治疗对贝赫切特病女性患者临床症状的影响
Malte Lenders,Albina Nowak,Markus Cybulla et al.
Malte Lenders et al.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of en...
Multicenter Study
Orphanet journal of rare diseases. 2024 Dec 27;19(1):490. DOI:10.1186/s13023-024-03503-4 2024
When care hurts: parents' experiences of caring for a child with epidermolysis bullosa [0.03%]
当关爱带来伤害：大疱性表皮松解症患儿父母的照护体验
Elisabeth Daae,Kristin Billaud Feragen,Terje Naerland et al.
Elisabeth Daae et al.
Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters ...
A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy [0.03%]
脊髓性肌萎缩症血清肌酐生物标志物的横断面和纵向评估研究
Xin Zhao,Zhenxiang Gong,Han Luo et al.
Xin Zhao et al.
Objective: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by proximal muscle weakness and atrophy. The increasing availability of disease-modifying therapies has prompted the d...
Shuai Xu,Jialiu Jiang,Leilei Chang et al.
Shuai Xu et al.
Background and objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and...
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees [0.03%]
GTPBP3缺乏症表型和基因谱的扩展——来自九个中国家系的研究结果
Yaojun Xie,Keyi Li,Li Yang et al.
Yaojun Xie et al.
Background: GTPBP3 catalyzes τm5(s2) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τm5U leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been report...
Application of four pricing models for orphan medicines: a case study for lumasiran [0.03%]
四种孤儿药定价模型的应用：Lumasiran案例研究
Noa Rosenberg,Evert Manders,Sibren van den Berg et al.
Noa Rosenberg et al.
Background: The combination of high prices and uncertain effectiveness is a growing challenge in the field of orphan medicines, hampering health technology assessments. Hence, new methods for establishing price benchmarks...
Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome [0.03%]
线粒体DNA缺乏症伴TFAM基因突变患儿的肝脏移植治疗
Jing Zhao,Lian Chen,Ni Wang et al.
Jing Zhao et al.
Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing o...