Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II [0.03%]
功能研究在评估反义寡核苷酸介导的外显子跳过治疗策略中的硫脂贮积病Ⅱ型方面的相关性
Mariana Gonçalves,Marisa Encarnação,Luciana Moreira et al.
Mariana Gonçalves et al.
Background: Mucolipidosis type II (ML II) is a lysosomal storage disorder caused by deficiency of N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT), which impairs the trafficking of lysosomal hydrolases. Of all ML II p...
Multimodal phenotypic clustering predicts cardiac outcomes in Fabry disease [0.03%]
多模态表型聚类可预测法布雷病患者的心脏预后
Elad Shemesh,Paul Feigin,Chong Yew Tan et al.
Elad Shemesh et al.
Background: Fabry disease (FD) is a rare lysosomal storage disorder with cardiac involvement. The efficacy of cardiac assessments in predicting disease progression is uncertain and few long-term studies have evaluated a c...
Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions [0.03%]
儿科医生在沟通阳性新生儿筛查结果（克里拜病）中的作用：障碍、促进因素及干预措施的想法
Laura Kirkpatrick,Erin Friel,Gysella Muniz et al.
Laura Kirkpatrick et al.
Background: In 2024, the U.S. Department of Health and Human Services added infantile Krabbe disease to the Recommended Uniform Screening Panel for Newborn Screening (NBS). Families have previously expressed wanting their...
persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis [0.03%]
对I型戈谢病治疗患者的慢性疼痛和疲劳降低生活质量的驱动因素进行横断面分析
Shauna L Mangum,Stephen H A Hernandez,Elizabeth L Dickson et al.
Shauna L Mangum et al.
Purpose: Gaucher disease type 1 (GD1) is a multisystem lysosomal disorder in which treatment with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) improves key clinical parameters. However, many patie...
A review of PI3K/AKT/mTOR inhibitors from traditional Chinese medicine: potential and perspective for activated phosphoinositide 3-kinase δ syndrome [0.03%]
中药中PI3K/AKT/mTOR抑制剂的研究：活化型磷脂酰肌醇-3-激酶δ综合征的潜在治疗及展望
Yixuan Xie,Linghui Nie,Litao Bai et al.
Yixuan Xie et al.
Activated phosphoinositide 3-kinase δ syndrome (APDS) is a primary immunodeficiency caused by hyperactivation of the PI3K/AKT/mTOR pathway, resulting in severe lymphoproliferation, recurrent infections, autoimmunity, and malignancy. Howeve...
Refining Human Phenotype Ontology (HPO) to enable better phenotype-genotype integration in systemic autoimmune rheumatic diseases [0.03%]
优化人类表型本体(HPO)，以促进系统性自身免疫风湿性疾病中更好的表型-基因型整合
Anastasia-Vasiliki Madenidou,Gillian I Rice,Sarah Dyball et al.
Anastasia-Vasiliki Madenidou et al.
Background: The Human Phenotype Ontology (HPO) provides a standardised framework for disease-phenotype associations. Given the complexity of systemic autoimmune rheumatic diseases (SARDs) and the absence of prior evaluati...
Stefania Della Vecchia,Alessandro Simonati,Maria Marchese et al.
Stefania Della Vecchia et al.
Background: Neuronal ceroid lipofuscinoses (NCLs) are rare genetic neurodegenerative disorders characterized by progressive cognitive, motor, and visual decline. The transition from supportive care to emerging disease-mod...
Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1 [0.03%]
用于矫正R1型肌萎缩导致的异常剪接的RNA靶向治疗策略纠正CAPN3致病突变引起的内含子异常剪接
Gaoyuan Li,Yunuo Guo,Guangyu Wang et al.
Gaoyuan Li et al.
Background: Pre-mRNA splicing is a highly precise process, and it is estimated that approximately 9%-11% of pathogenic variants in patients with rare genetic diseases are caused by non-coding variants that disrupt this me...
Disordered eating in diet-treated inborn errors of metabolism: screening and behavioral insights [0.03%]
饮食治疗的先天性代谢错误患者的紊乱饮食：筛查和行为见解
Mary Kate LoPiccolo,Claire Cinnamon,Colleen Donnelly et al.
Mary Kate LoPiccolo et al.
Background: Lifelong restrictive diets are a mainstay of management for many inborn errors of metabolism (IEMs). The experience of metabolic care providers suggests higher prevalence of disordered eating behaviors in this...
Diagnosis of de novo fetal aceruloplasminemia via whole exome sequencing and fetal umbilical blood ceruloplasmin measurement [0.03%]
全外显子组测序及胎儿脐带血含铜蓝蛋白检测在新生儿原发性胎儿乙型肝炎诊断中的应用
Pengzhen Jin,Guangmei Dai,Jiawei Hong et al.
Pengzhen Jin et al.
Background: Aceruloplasminemia is an autosomal recessive disorder, characterized by diabetes mellitus and progressive neurological symptoms, absent of phenotype before delivery. It is caused by mutations in CP, resulting ...