Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients [0.03%]
中国20例先天性糖基化障碍疾病患者的临床和基因特征分析
Peiwei Zhao,Li Tan,Qingjie Meng et al.
Peiwei Zhao et al.
Background: Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. These disor...
Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients [0.03%]
左心室高 trab 样式是长 qt 综合征患者致命性心律失常事件的新型预测指标
Jing Yang,Kun Li,Fang Liu et al.
Jing Yang et al.
Background: Long QT syndrome (LQTS) is a malignant cardiac channelopathy for patients with traditionally normal heart structures. Sporadic cases reported left ventricular hypertrabeculation (LVHT) was a deadly double hit ...
PI3K/AKT/mTOR axis in vascular malformations: from molecular insights to targeted clinical trials [0.03%]
磷脂酰肌醇-3-激酶/蛋白激酶B/mammalian目标的雷帕霉素靶点轴在血管畸形领域中的研究：从分子机制到临床试验治疗方向
Yuan-Yang Zheng,Chen Hua,Xiao-Xi Lin
Yuan-Yang Zheng
Background: Vascular malformations are congenital disorders characterized by abnormal blood and/or lymphatic vessels, often leading to pain, functional impairment, and severe complications. Recent advances in molecular ge...
Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983-2022 [0.03%]
1983至2022年美国和中国罕见病药物审批趋势、滞后及特征分析
Shaohong Wang,Xin Liu,Yuzhen Zou et al.
Shaohong Wang et al.
Background: Over the past approximately 40 years, Chinese drug regulations have undergone many major reforms to accelerate the approval of drugs and keep pace with the scientific innovation of drugs in the world, especial...
Comprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approach [0.03%]
伊朗线粒体疾病诊断和管理的综合指南：基于证据和共识的方法
Setila Dalili,Noushin Rostampour,Seyedeh Tahereh Mousavi et al.
Setila Dalili et al.
Mitochondrial disorders are a heterogeneous group of inherited metabolic diseases resulting from dysfunctions in oxidative phosphorylation. These conditions predominantly affect high-energy-demand organs such as the brain, heart, liver, and...
Novel compound heterozygous mutations in plasminogen (p.Gly568Arg/p.Ala620Thr) impair protein structure and function in type II deficiency: mechanistic insights into a hereditary thrombogenic disorder [0.03%]
新型异质性复合突变（p.Gly568Arg/p.Ala620Thr）损害血浆蛋白结构和功能导致Ⅱ型血浆酶原缺乏：遗传性促凝病的机制研究
Yifan Lu,Fengjiao Wang,Dandan Yu et al.
Yifan Lu et al.
Background: Hereditary plasminogen (PLG) deficiency represents an extremely rare autosomal recessive disorder characterized by impaired fibrinolytic capacity resulting from diminished PLG enzymatic activity. In this study...
Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study [0.03%]
对苯酮尿症患者的生长模式、体重和饮食管理的临床评估-回顾性研究
Lionesa Bahtiri,Christine Jørgensen,Kirsten Ahring et al.
Lionesa Bahtiri et al.
Background: Phenylketonuria (PKU) is an inherited metabolic disorder where the body cannot break down phenylalanine (Phe), leading to its harmful accumulation if left untreated. Concerns have been raised about growth and ...
Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation [0.03%]
TTR Lys55Asn突变ATTR多发性神经病家系的临床及基因分析
Nannan Qian,Taohua Wei,Yufei Qian et al.
Nannan Qian et al.
Background: transthyretin-mediated familial amyloid polyneuropathy (ATTR-PN), caused by TTR gene mutations, leads to systemic amyloid deposition and multisystem dysfunction. The c.165G > C (p.Lys55Asn) mutation is a rare ...
Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study [0.03%]
基因型表型相关性及巨大膀胱、肠管细小和肠道低动力综合征的管理：描述性队列研究
Johannes Hilberath,Ilias Tsiflikas,Anna Sanders et al.
Johannes Hilberath et al.
Personalized sirolimus regimen for vascular malformations: a retrospective analysis of VASE cohort [0.03%]
西罗莫司治疗血管畸形的个体化方案：VASE队列的回顾性分析
Emmanuel Seront,An Van Damme,Julien Coulie et al.
Emmanuel Seront et al.
Background: The mTOR inhibitor Sirolimus was shown to improve symptoms in patients with slow-flow vascular malformations, but long-term continuous use is limited by cumulative toxicity. A personalized approach with interm...