Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies [0.03%]
RAS病综合症的神经发育和心理健康照顾的观点
Evelyn M Elizondo,Anne M Floyd,Allison M H Foy et al.
Evelyn M Elizondo et al.
Background: Clinical studies have begun to evaluate therapeutic approaches to address the widespread neurodevelopmental and mental health challenges associated with a group of genetic syndromes known as "RASopathies." How...
A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment [0.03%]
ALDH7A1双等位基因致病性变异所致维生素B6依赖性癫痫的新型疗法：曲普茋胺治疗改善线粒体能量缺乏和神经发育结局
Anastasia Ambrose,Morganne McCabe,Shalini Bahl et al.
Anastasia Ambrose et al.
Background: Pyridoxine-dependent epilepsy (PDE) due to biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1) is an metabolic disease of lysine catabolism. Current standard treatment includes pyridoxine, arginine, and lys...
The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis [0.03%]
爱尔兰PBC患者登记系统：原发性胆汁性肝硬化国家平台的研究方案
Gerry Nesbitt,Alexandra Curley
Gerry Nesbitt
Background: Primary Biliary Cholangitis (PBC) is a chronic, progressive liver disease. This paper outlines how a PBC patient registry was developed to address the gaps in evidence, care and policy affecting PBC patients i...
Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease [0.03%]
米格鲁司特：一种针对晚发型庞贝病治疗的α-葡萄糖苷酶酸性稳定剂cipaglocasid α的第一类酶稳定剂
Robert J Hopkin,Barry J Byrne,Mazen M Dimachkie et al.
Robert J Hopkin et al.
Late-onset Pompe disease (LOPD) is a rare inherited disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to an accumulation of lysosomal glycogen in tissues, profoundly affecting muscles. Patients with LO...
Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials [0.03%]
阿糖苷酶α联合米格鲁司特治疗晚发型庞贝病的居家给药安全性：多项临床试验结果
Henning Andersen,Jordi Díaz-Manera,Ozlem Goker-Alpan et al.
Henning Andersen et al.
Background: Late-onset Pompe disease (LOPD) is caused by a deficiency of the acid α-glucosidase enzyme. In LOPD treatment, enzyme replacement therapy is delivered via intravenous infusion, typically in clinical settings....
Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs [0.03%]
北美地区的溶酶体贮积症综述：全面回顾酶替代疗法及未满足需求
Lunawati L Bennett
Lunawati L Bennett
This review explores enzyme replacement therapies (ERTs) for lysosomal storage diseases (LSDs), focusing on disease characteristics, mechanisms of action, clinical benefits, limitations, and implications for patient care and access. LSDs ar...
From care to cure: a patient engagement framework for rare disease and orphan drug research [0.03%]
从关怀到治愈：罕见病和孤儿药研究中的患者参与框架
Nahya Awada,Anil Varughese
Nahya Awada
Background: Rare diseases (RDs) encompass over 6000-8000 conditions, with 94% lacking available therapies. These conditions affect 400 million people globally, including three million Canadians, who face numerous challeng...
Clinical characteristics, treatments, and complications of Kawasaki disease in Peruvian children: a retrospective observational study [0.03%]
秘鲁儿童川崎病的临床特征、治疗及并发症：一项回顾性观察研究
Noé Atamari-Anahui,Giancarlo Alvarado-Gamarra,Nadin Conto-Palomino et al.
Noé Atamari-Anahui et al.
Background: Kawasaki disease (KD) is a rare medium-sized vessel vasculitis that is the leading cause of acquired heart disease in children. However, most studies on KD focused on its occurrence in infants aged
Individualized therapy development for rare diseases: individualized at every step of the way [0.03%]
罕见病的个体化治疗开发：步步个性化
Marlen C Lauffer,Tim Yu,Annemieke Aarstma-Rus
Marlen C Lauffer
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study [0.03%]
ASPIRO研究的通俗解读：用于X连锁肌管性肌病儿童患者的基因治疗
Perry B Shieh,Wendy Hughes,Marie Wood et al.
Perry B Shieh et al.
What is this summary about? This summary describes the results of a research study (clinical trial) called ASPIRO that was published in the Lancet Neurology in 2023. This study looked at an investigational gene therapy called resamirigene b...