Burden of respiratory syncytial virus in spinal muscular atrophy: a retrospective nationwide cross-sectional and birth cohort study [0.03%]
脊髓性肌萎缩症患者呼吸道合胞病毒感染负担回顾性全国横断面和出生队列研究
Hao-Wei Chung,Chen-Hua Wang,Chia-Hung Yu et al.
Hao-Wei Chung et al.
Background: Spinal muscular atrophy (SMA) is a severe neuromuscular disease associated with a high risk of respiratory complications, yet real-world data on respiratory syncytial virus (RSV) infection in this population r...
Clinical, pathological, and genetic characteristics of 23 DMD patients in northern China [0.03%]
北方中国23例杜氏肌营养不良患者的临床病理及遗传特征分析
Yi Bu,Jingzhe Han,Jinliang Deng et al.
Yi Bu et al.
Background: Duchenne muscular dystrophy (DMD) is a rare X-linked neuromuscular disorder characterised by heterogeneous early manifestations. This study summarised the clinical, pathological, and genetic characteristics of...
Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production [0.03%]
通过抑制肝素和红细胞生成亚氨基茋生产治疗ADP紫质病患者
Niels C Veldhoen,Nicole C Peltenburg,Eduard J van Beers et al.
Niels C Veldhoen et al.
δ-Aminolevulinic acid dehydratase deficient porphyria (ADP) is an exceedingly rare form of acute porphyria, with only fifteen published cases worldwide. This disorder has historically been considered an hepatic porphyria, as it was thought...
Total glucosides of Paeony alleviates chronic endometritis in rats through regulating gut microbiota composition and inhibiting TLR4/NF-κB/NLRP3 pathway [0.03%]
丹参素通过调节肠道菌群组成和抑制TLR4/NF-κB/NLRP3途径治疗大鼠慢性子宫内膜炎
Xijia Ma,Xuelin Zhang,Dandan Wang et al.
Xijia Ma et al.
Objective: This study aimed to elucidate the functional role and regulating mechanism of Total Glucosides of Paeony (TGP) in chronic endometritis (CE). Me...
Rafael Hencke Tresbach,João Braga de Abreu Neto,Fernanda Sperb-Ludwig et al.
Rafael Hencke Tresbach et al.
Phenylketonuria (PKU), one of the most common inherited metabolic disorders, is caused by biallelic loss-of-function variants in the phenylalanine hydroxylase (PAH) gene. More than 1000 pathogenic variants have been described in this gene. ...
Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment [0.03%]
法布吕病的心脏学方面：从诊断到疗效评估
Francesca Graziani,Elena Biagini,Alessia Argirò et al.
Francesca Graziani et al.
Background: Fabry disease (FD) is a rare inborn error of metabolism in which absent or deficient activity of α-galactosidase A leads to lysosomal dysfunction and globotriaosylceramide accumulation in different organs, in...
Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase [0.03%]
艾度色糖酶β治疗黏多糖贮积症II型的长期临床疗效：一项纳入转换来自艾度糖酶α患者的关键性延展研究2年随访经验
Minji Im,Ari Song,Hyojung Park et al.
Minji Im et al.
Background: Long-term safety and efficacy data on enzyme replacement therapy, particularly switching between recombinant iduronate-2-sulfatase formulations, remain limited in mucopolysaccharidosis II (MPS II). This open-l...
Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature review [0.03%]
一种新的三A综合征突变模式的病例报道及文献回顾（奥地利首例）
Karolina Anderle,Theresa Muellner-Bucsics,Alek Stadlmann et al.
Karolina Anderle et al.
Purpose: Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder, characterised by achalasia, alacrima, and adrenal insufficiency. The syndrome is caused by various mutations in the AAAS...
Analysis of homocysteine levels in carriers with MMACHC gene variants [0.03%]
MMACHC基因突变携带者同型半胱氨酸水平分析
Yi Ding,Yuxin Deng,Haijuan Zhi et al.
Yi Ding et al.
Objective: Variants in the MMACHC gene cause combined methylmalonic acidemia (MMA) and homocystinuria, cobalamin C (cblC) type. This study aimed to determine whether heterozygous MMACHC variant carriers exhibit elevated p...
Prevalence and cardiovascular phenotypes of dextrocardia and situs inversus among 277,396 adults: longitudinal evidence of amplified age-related blood pressure progression [0.03%]
277396名成年人的右位心和内脏反位的流行率及心血管表型：纵向观察到年龄相关的血压进展加剧证据
Dehao Zhang,Mei Lin,Xiaona Wang et al.
Dehao Zhang et al.
Background: Dextrocardia and situs inversus are rare congenital malformations. Although associated anomalies are well recognized, their prevalence in unselected adult populations and their cardiovascular phenotypes, parti...