A case of a 39-year-old man with novel mutation and classic Fabry disease who showed different changes of several biomarkers and speckle tracking after enzyme replacement therapy

Kim Gee-Hee

首页> 外文期刊>Molecular genetics and metabolism >A case of a 39-year-old man with novel mutation and classic Fabry disease who showed different changes of several biomarkers and speckle tracking after enzyme replacement therapy

【24h】

A case of a 39-year-old man with novel mutation and classic Fabry disease who showed different changes of several biomarkers and speckle tracking after enzyme replacement therapy

机译：一个三个新的突变和经典的法布里疾病的39岁男性，酶替代治疗后呈现出不同变化的几种生物标志物和散斑追踪

获取原文

获取原文并翻译 | 示例

获取外文期刊封面目录资料

开具论文收录证明 >>

文献代查 >>

文献数据库（团队版） >>

页面导航

著录项
引文网络
相似文献
相关主题

著录项

来源
《Molecular genetics and metabolism》 |2019年第2期|共1页
作者
Kim Gee-Hee;
展开▼
作者单位

Catholic Univ Korea Coll Med St Vincents Hosp Suwon South Korea;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词

相似文献

外文文献
专利

1. A case of a 39-year-old man with novel mutation and classic Fabry disease who showed different changes of several biomarkers and speckle tracking after enzyme replacement therapy [J] . Kim Gee-Hee Molecular genetics and metabolism . 2019,第2期

机译：一个三个新的突变和经典的法布里疾病的39岁男性，酶替代治疗后呈现出不同变化的几种生物标志物和散斑追踪
2. Disease Progression Modeling to Evaluate the Effects of Enzyme Replacement Therapy on Kidney Function in Adult Patients with the Classic Phenotype of Fabry Disease [J] . Nowak A., Koch G., Huynh-Do U., Kidney and blood pressure research . 2017,第1期

机译：疾病进展模型，评估酶替代疗法对法布里病经典表型成年患者肾脏功能的影响
3. Are genotype and biomarkers enough to initiate enzyme replacement therapy in Fabry disease? The value of the biopsy [J] . Molecular genetics and metabolism . 2020,第2期

机译：是基因型和生物标志物，足以在法布里疾病中启动酶替代疗法吗？活组织检查的价值
4. Endothelial Targeted Enzyme Replacement Therapy for Fabry Disease [C] . D. Serrano, J. Hsu, K.V.N. Kumar, Annual meeting exposition of the Controlled Release Society . 2009

机译：Fabry病的内皮靶向酶替代治疗
5. Concurrent validity and responsiveness of the Peabody Developmental Motor Scales-2 in infants and children with Pompe disease undergoing enzyme replacement therapy [D] . Phillips, Dawn. 2012

机译：皮博迪发育运动量表2在接受酶替代疗法的庞贝病婴儿和儿童中的并发有效性和反应性
6. Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles [O] . Michel Boutin, Pamela Lavoie, Iskren Menkovic, 2020

机译：酶置换治疗循环期间尿布法制造生物标志物的昼夜变异
7. HIT Poster session 1P154Preclinical diastolic dysfunction is related to impaired endothelial function in patients with chronic kidney diseaseP155Early detection of left atrial and left ventricular abnormalities in hypertensive and obese womenP156Right ventricle preserved systolic function irrespective of right ventricular hypertrophy and disease severity in anderson fabry diseaseP157Left atrial volume and function in patients undergoing percutaneous mitral valve repairP158Impact of left ventricular dysfunction on outcomes of patients undergoing direct TAVI with a self-expanding bioprosthesisP159Anatomic Doppler spectrum – retrospective spectral tissue Doppler from ultra high frame rate tissue Doppler imaging for evaluation of tissue deformationP160Phasic dynamics of ischaemic mitral regurgitation after primary coronary intervention in acute myocardial infarction: serial echocardiographic assessment from emergency room to long-term follow-upP161Reproducibility of 3DE RV volumes - novel insights at a regional levelP162Pulmonary vascular capacitance as assessed by echocardiography in pulmonary arterial hypertensionP163Three-dimensional endocardial area strain: a novel parameter for quantitative assessment of global left ventricular systolic functionP164Role of exercise hemodynamics assessed by echocardiography on symptom reduction after MitraClipP165Early identification of ventricular dysfunction in patients with juvenile systemic sclerosisP166Heart failure with and without preserved ejection fraction - the role of biomarkers in the aspect of global longitudinal strainP167Complex systolic deformation of aortic root: insights from two dimensional speckle tracking imageP168Volumetric and deformational imaging usind 2d strain and 3d echocardiography in patients with pulmonary hypertensionP169Influence of pressure load and right ventricular morphology and function on tricuspid regurgitation in pulmonary arterial hypertensionP170Left ventricular myocardial diastolic deformation analysis by 2D speckle tracking echocardiography and relationship with conventional diastolic parameters in chronic aortic regurgitationP171Extracellular volume, and not native T1 time, distinguishes diffuse fibrosis in dilated or hypertrophic cardiomyopathy at 3TP172Left atrial strain is significantly reduced in arterial hypertensionP173Symptomatic severe secondary mitral regurgitation: LV enddiastolic diameter (LVEDD) as preferable parameter for risk stratificationP174Left ventricular mechanics in isolated left bundle branch block at rest and when exercising: exploration of the concept of conductive cardiomyopathyP175Assessment of myocardial scar by 2D contrast echocardiographyP176Chronic pericarditis - expression of a rare disease: Erdheim Chester diseaseP177Aortic arch mechanics with two-dimensional speckle tracking echocardiography to estimate the left ventricular remodelling in hypertensive patientsP178Strain analysis by tissue doppler imaging: comparison of conventional manual measurement with a semi-automated approachP179Distribution of extravascular lung water in heart failure patients assessed by lung ultrasoudP180Surrogate markers for obstructive coronary artery diseaseP181LA deformation and LV longitudinal strain by two-dimensional speckle tracking echocardiography as predictors of postoperative AF development after aortic valve replacement in ASP182Left ventricular diastolic dysfunction in type 2 diabetic patients with non alcoholic fatty liver diseaseP183Myocardial strain by speckle-tracking and evaluation of 3D ejection fraction in drug-induced cardiotoxicity's approach in breast cancer [O] . AB Gevaert, A Borizanova, F Graziani, 2015

机译：HIT墙报1P154Preclinical舒张功能障碍的慢性肾脏diseaseP155Early检测左心房的相关内皮功能受损，左心室异常，高血压和肥胖womenP156Right心室收缩功能正常，不论右心室肥厚和疾病严重程度在安德森法布里diseaseP157Left房容积和经皮二尖瓣修复患者的功能左心室功能障碍与自膨胀生物升降术患者患者患者的结果，来自超高帧速率组织多普勒成像的患者，用于评估缺血二尖瓣复发的组织变形P160平面动力学后在急性心肌梗死冠脉介入干预：从急诊室到三维超声心动图右心室体积的长期跟踪upP161Reproducibility串行超声心动图评价 - 小说由肺动脉高压肺动脉高压术中超声心动图评估的区域SEATP162玻璃血管电容的见解随着少年全身硬化肺源肌腱肌肤，无需保存的射血分数 - 生物标志物在全球纵向菌株的角色在全球纵向菌株P167比分中的一个主动脉根系中的内容：来自二维散斑跟踪Imagep168散热和变形成像的见解，肺高压患者患者患者患者肺动脉高压患者肺动脉高压肺动脉高压术治疗肺动脉高压术治疗的压力载荷和右心室形态和功能通过2D散斑跟踪超声心动图和与常规舒张性参数的关系分析慢性主动脉率高，而不是天然T1的时间，在3TP172LEFT心房菌株中区分扩张或肥厚性心肌病的扩散纤维化在动脉高压症中显着降低了，在动脉高压症P1173例，严重二次二尖瓣重新改善：LV EndDiaal直径（LVEDD）作为休息左侧束分支块中孤立的左束分支块的风险分层P11744444444444444445的概念：探讨了2D对比超声心动图176Chronic心包炎的心肌瘢痕的导电心肌病概念 - 表达罕见具有二维散斑跟踪超声心动图的力学来估算组织多普勒成像的高血压患者左心室重塑：常规人的比较通过半自动方法测量肺血管肺患者肺血管肺水分分布，由肺超声波180surrogalsp181LA变形和LV纵向应变通过二维散斑跟踪超声心动图作为术后AF的预测因子在ASP182LEFT中更换主动脉瓣膜置换后2型糖尿病患者的心室舒张功能障碍非酒精性脂肪肝病患者P183微囊菌株通过斑点跟踪和评估3D乳腺癌中的3D射血分数的评估
8. Pilot Scale Isolation of Ceramide Trihexosidase from Human Plasma and Clinical Evaluation of Enzyme Replacement Therapy in Fabry's Disease. [R] . sweeley,charles c. 1975

机译：人体血浆中神经酰胺三己糖苷酶的中试分离及法布里氏病酶替代疗法的临床评价。

A case of a 39-year-old man with novel mutation and classic Fabry disease who showed different changes of several biomarkers and speckle tracking after enzyme replacement therapy

著录项

引文网络

相似文献

相关主题

期刊订阅