Adverse events of givosiran in the treatment of acute hepatic porphyria: a pharmacovigilance study using the FAERS and VigiAccess databases [0.03%]
基于FAERS和VigiAccess数据库的givosiran治疗急性肝性卟啉病不良反应的信号检测研究
Yinpeng Xu,Fang Li,Li Huang et al.
Yinpeng Xu et al.
Background: Acute hepatic porphyria is a rare metabolic disorder characterized by life-threatening acute attacks and chronic neurological symptoms. Givosiran is an RNA interference therapeutic approved by the FDA in 2019 ...
Mortality in octogenarian patients with transthyretin amyloidosis treated with tafamidis: a systematic review and meta-analysis [0.03%]
老年期 transthyretin 病毒性心肌病患者使用 tafamidis 治疗的死亡率：系统回顾和元分析
Christiane Santo,Vinicius Machado Correia,Maria L R Defante et al.
Christiane Santo et al.
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) predominantly affects older adults, and tafamidis has proven efficacy in reducing mortality and hospitalizations in this population. However, its clinical benefit...
"If I go down, if I crumble, then everybody does" - identity crisis and emotional strain in parents of children with rare and undiagnosed conditions: a qualitative study [0.03%]
“如果我倒下了，所有人都会崩溃”——罕见病及病因未明疾病患儿父母的身份认同危机和情感压力：定性研究
Tara Maria Hoffmann,Bettina Friedrich,Celine Lewis
Tara Maria Hoffmann
Background: Caring for a child with a rare condition can significantly impact parents' emotional health, yet research on the emotional impact is limited. This qualitative interview study sought to investigate the lived ex...
Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disorders [0.03%]
基于亚洲筛查基因阵列的种植前遗传学检测多种遗传病的应用研究
Cuiting Peng,Jun Ren,Fan Zhou et al.
Cuiting Peng et al.
Background: Preimplantation genetic testing for monogenic disorders (PGT-M) represents a critical clinical strategy for preventing the transmission of hereditary diseases from carriers to offspring, with its diagnostic ef...
Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice [0.03%]
国际临床实践指导下的枫糖尿病急性代谢恶化的管理
Aude Servais,Marie Therese Abi-Wardé,Jean-Baptiste Arnoux et al.
Aude Servais et al.
Background: Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of metabolism caused by a deficiency of branched-chain ketoacid dehydrogenase, the enzyme involved in the second step of branched-chain a...
Correction: Recessive congenital methemoglobinemia: a systematic review of reported cases [0.03%]
纠正：先天性显性遗传型氰化物甲基血红蛋白病：已报道病例的系统评价
Julie Neven,Tessi Beyltjens,Marije Meuwissen et al.
Julie Neven et al.
Published Erratum
Orphanet journal of rare diseases. 2026 Jun 5;21(1):214. DOI:10.1186/s13023-026-04372-9 2026
Living with Xeroderma Pigmentosum: a qualitative study of the psychosocial challenges experienced by families of children with a rare skin disorder [0.03%]
儿童患有罕见皮肤病的家庭所经历的心理社会挑战的定性研究——与色素性干皮病共存
Jordana McLoone,Kyra Webb,Kathy Tucker et al.
Jordana McLoone et al.
Background: Xeroderma Pigmentosum (XP), is a rare genetic condition characterised by extreme sensitivity to ultra violet (UV) radiation, conferring a 2,000- to 10,000-fold increased risk of developing melanoma and non-mel...
The impact of cardiovascular risk factors in non-classical Fabry disease [0.03%]
非经典型法布雷病的心血管危险因素的影响
Bram C F Veldman,Laura van Dussen,Mareen R Datema et al.
Bram C F Veldman et al.
Background: Recent advances in diagnostic and screening technologies have led to increased identification of presumed pathogenic GLA variants associated with non-classical Fabry disease (FD). However, the high number of i...
Solitary infantile myofibromatosis of the extremities: a multicenter case series with descriptive analysis of recurrence and β-catenin expression [0.03%]
四肢孤立性婴儿肌纤维瘤病：多中心病例系列及复发和β-连环素表达的描述性分析
Hüseyin Emre Tepedelenli̇oğlu,Mustafa Onur Karaca,Şefik Murat Arikan et al.
Hüseyin Emre Tepedelenli̇oğlu et al.
Background: Infantile myofibromatosis (IM) is a rare benign myofibroblastic neoplasm of infancy that usually involves the skin, bone, muscle, and soft tissue and rarely visceral organs. ...
Emotion-tremor coupling in Wilson's disease: EEG microstate C as a marker of salience network dysregulation [0.03%]
威尔逊病的情感-震颤耦合：EEG微状态C作为标记异常感觉重要性网络的标志
Pei-Zhu Zhang,Meng Wang,Xiao Wen et al.
Pei-Zhu Zhang et al.
Background: Emotional states are known to modulate tremor severity in Wilson's disease (WD), but the neural mechanisms underlying this emotion-tremor coupling remain poorly understood. This study aimed to investigate the ...