Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey [0.03%]
神经肌肉疾病儿童向成人过渡的结果来自ERN EURO-NMD调查
Teresinha Evangelista,Houda Ali,Charlotte Handberg et al.
Teresinha Evangelista et al.
Background: Neuromuscular diseases (NMDs) are rare, progressive conditions that require lifelong, multidisciplinary care. Advances in diagnosis and treatment have increased survival into adulthood, making the transition f...
Potential role of the comprehensive tooth extraction procedure in preventing medication related osteonecrosis of the jaw (MRONJ): a prospective cohort study [0.03%]
全面拔牙预防药物相关颌骨坏死的潜在作用(MRONJ)：一项前瞻性队列研究
Yi Wang,Yu Zhang,Dengke Li et al.
Yi Wang et al.
Background: This article aims to elucidate the potential role of a comprehensive tooth extraction procedure in preventing mdication-related osteonecrosis of the jaw (MRONJ) through a prospective cohort study. By systemati...
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases [0.03%]
社交药物创新如何解决罕见病药品可获得性、可及性和可负担性问题
Conor M W Douglas,Tineke Kleinhout-Vliek,Rob Hagendijk et al.
Conor M W Douglas et al.
Background: The current organization of the pharmaceutical innovation system poses three major challenges for rare disease patients in terms of availability, accessibility and affordability of treatments. While some chang...
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I [0.03%]
一组仅接受酶替代治疗的I型黏多糖贮积症患者的临床转归分析
Nathalie Guffon,Magali Pettazzoni,Nicolas Pangaud et al.
Nathalie Guffon et al.
Background: Mucopolysaccharidosis type I (MPS I), is an autosomal recessive disorder caused by a deficiency in the enzyme α-L-iduronidase (IDUA), leading to the accumulation of glycosaminoglycans (GAGs) in tissues. Early...
Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review [0.03%]
脊髓性肌萎缩症修正疾病进程疗法的经济学评价：系统文献回顾
Mehdi Yousefi,Amin Mehrabian,Anna Brown et al.
Mehdi Yousefi et al.
Background: Spinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, ona...
Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations [0.03%]
关于在非典型患者人群中识别和诊断急性肝性血紫质病的建议
Katharina Schmolly,Vivek Rudrapatna,Simon Beaven
Katharina Schmolly
Background: Acute Hepatic Porphyria (AHP) is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack o...
Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group [0.03%]
儿童及成人酸性脂肪酶缺乏症概览：海湾合作组织工作小组专家共识建议
Moeenaldeen AlSayed,Khalid Al Rasadi,Noura S AlDhaheri et al.
Moeenaldeen AlSayed et al.
Background: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive ultrarare lysosomal storage disease caused by pathogenic/likely pathogenic variants in the LIPA gene. The age of onset and progression rate ca...
Management of hereditary angioedema with normal C1Inh: a series of 163 French patients [0.03%]
163例法国患者的C1INH正常的遗传性血管性水肿的管理
Alexis Bocquet,Laurence Bouillet,Gaelle Hardy et al.
Alexis Bocquet et al.
Background: The diagnosis of hereditary angioedema with a normal C1Inh was genetic. The two most frequent pathogenic variants are found in the FXII and PLG genes. Their management is similar to that of HAE patients with C...
Data accuracy in the European Cystic Fibrosis Society Patient Registry: results of an on-site data validation project [0.03%]
欧洲囊性纤维化患者登记处的数据准确性：现场数据验证项目的成果
Naehrlich Lutz,Fox Alice,Krasnyk Marko et al.
Naehrlich Lutz et al.
Background: Patient registries are valuable tools for epidemiological research, especially for rare diseases, and a high level of data quality is essential but not always demonstrated. Although crucial, the quality manage...
Results of a non-randomized, open-label phase I study evaluating the novel Immunomodulatory peptide TCP-25 for treatment of dystrophic epidermolysis bullosa [0.03%]
评估新型免疫调节肽TCP-25治疗营养不良性大疱表皮松解症的I期开放标签非随机试验结果
Karl Wallblom,Katja Holmgren,Sigrid Lundgren et al.
Karl Wallblom et al.