Etranacogene dezaparvovec for hemophilia B gene therapy [0.03%]
治疗乙型血友病的基因疗法药物Etranacogene dezaparvovec
Courtney D Thornburg
Courtney D Thornburg
The treatment landscape for hemophilia has been rapidly changing with introduction of novel therapies. Gene therapy for hemophilia is a promising therapeutic option for sustained endogenous factor production to mitigate the need for prophyl...
Haseeb Akram,Jose Antonio Aragon-Martin,Aman Chandra
Haseeb Akram
Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and subsequent diagnosis begins in the ophthalmology clinic. Importantly, t...
IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland [0.03%]
IMPACT研究：测量照护对爱尔兰黏多糖贮积症儿童和成人及其家庭和医疗专业人员的影响
Suja Somanadhan,Hannah Bristow,Ellen Crushell et al.
Suja Somanadhan et al.
Introduction: Disease trajectories are often uncertain among individuals living with mucopolysaccharidoses (MPS) due to the progressive nature of the illness and the goal of care. This study investigated the impact on car...
Understanding the perspective of patients with pulmonary arterial hypertension: looking beyond health-related quality of life [0.03%]
理解肺动脉高压患者的视角：超越与健康相关的生活质量
Aldo Aguirre-Camacho
Aldo Aguirre-Camacho
They've been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients' current symptoms, unmet needs and healthcare expectations [0.03%]
她们被出卖了：关于机构和提供者背叛行为的报道与艾勒斯-丹洛斯综合症患者目前的症状、需求未被满足及对医疗保健期望之间的关联性报告
Jennifer Langhinrichsen-Rohling,Chrystal L Lewis,Sean McCabe et al.
Jennifer Langhinrichsen-Rohling et al.
Introduction: Patients with rare and/or care-intensive conditions, such as Ehlers-Danlos Syndrome (EDS), can pose challenges to their healthcare providers (HCPs). The current study used the BITTEN framework1 to code EDS p...
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series [0.03%]
PGM1-CDG病例系列的新型研究见解及其长期D-半乳糖治疗的表型反应
Silvia Radenkovic,Christin Johnsen,Andreas Schulze et al.
Silvia Radenkovic et al.
Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic present...
Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report [0.03%]
成功进行的黏多糖贮积症VI型同胞相合脐血和骨髓混合移植病例报告
Pankti Haria,Vinayak Kedage,Pradnya Dalvi et al.
Pankti Haria et al.
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, polydystrophic dwarfism, and arysulfatase B (ASB) deficiency, is a lysosomal storage disorder with autosomal recessive inheritance characterized by progressive m...
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report [0.03%]
左瓣膜性心脏疾病的黏多糖贮积症患者并发视网膜病变的病例报告
Faizal Z Asumda,Jessica A Kraker,Sarah C Thomas et al.
Faizal Z Asumda et al.
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides hep...
Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report [0.03%]
视乳头水肿和视网膜病变为IgA肾病的临床表现：病例报告
James T Kwan,Erin Lanzo,David J Ramsey et al.
James T Kwan et al.
This case features a young healthy male who was diagnosed with immunoglobulin A (IgA) nephropathy after presenting with blurry vision that was caused by hypertensive retinopathy and papilledema. In this report, we examine the relationship b...
Samantha Taylor
Samantha Taylor