Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

Ellaway Carolyn

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Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

机译：诊断困境与法布里病的延迟：案例系列患者的见解

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《Journal of paediatrics and child health 》 |2015年第4期| 共4页
作者
Ellaway Carolyn;
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作者单位

Childrens Hosp Westmead Western Sydney Genet Program Locked Bag 4001 Sydney NSW 2145 Australia;

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正文语种 eng
中图分类儿科学 ;
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1. Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients [J] . Ellaway Carolyn Journal of paediatrics and child health . 2015 ,第4期

机译：法布里病的诊断困境和延误：一系列年轻女性患者的见解
2. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance [J] . Smid B. E., Hollak C. E. M., Poorthuis B. J. H. M., Clinical Genetics: An International Journal of Genetics in Medicine . 2015 ,第2期

机译：法布里病诊断难题：临床意义未知的GLA突变病例系列研究
3. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" alpha-galactosidase a large deletion. [J] . Feldt Rasmussen U, Dobrovolny R, Nazarenko I, Molecular genetics and metabolism . 2011 ,第3期

机译：诊断难题：一名年轻女子，患有法布里氏病症状，无家族史，且“测序隐秘”α-半乳糖苷酶大量缺失。
4. Serum diagnostics and clinical value of anti-thyroid autoantibodies of different specificity and functionality in patients with autoimmune thyroid diseases and their relatives as disease predictors [C] . Andreeva A.V., Bogatyreva Z.I., Isaeva M.A., World Asthma and COPD Forum . 2010

机译：自身免疫甲状腺疾病患者及其亲属作为疾病预测因子的患者抗甲状腺自身抗体的抗甲状腺自身抗体的临床价值
5. The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group. [D] . Honda, Stacey Ann Akemi. 2002

机译：分子诊断在两种疾病过程中的临床病理相关性中的意义：急性疾病中PSA血清水平，以及血栓形成患者和对照患者（按种族）的活化蛋白C抗性和因子V突变的患病率。
6. Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series [O] . Daisuke Tomioka, Koichi Kato, Tomoya Ozawa, 2021

机译：雌性杂合子患者同一遗传变异相关的多种表型表达：案例系列
7. Poster Session 1The imaging examination and quality assessmentP185Why did the normal values of the left and right atrial volumes increase in the recent chamber quantification guidelines update?P186Atrial electromechanical delay, Left Atrial mechanical functions and longitudinal left ventricular strain in pre-diabetic patientsP187A web-based platform for e-training in echocardiographyP188Righ atrial size as a marker of success in electrical cardioversion in patients with persistent atrial fibrillationP189Echocardiographic assessment of left atrial dimensions and function in a healthy populationP190Impact of carotid artery revascularization on the cognitive and functional outcome and cerebral flow on TCD and brain MRI in patients with symptomatic carotid artery stenosis: a preliminary reportP191Aortic elasticity is impaired in hypereosinophilic syndromeP192Disturbed intracardiac flow transit prognosticates early decompensation in dilated cardiomyopathyP193Ultrasound guided treatment in acute heart failureP194Determinants of impaired global longitudinal function in middle-aged subjects free of cardiovascular diseaseP195Left ventricular remodeling in asymptomatic heart failure: classification and prognostic evaluationP196Restricted displacement of lateral right ventricular wall: a physiopathological explanation of geometrical and functional cardiac changes after cardiac surgeryP197A novel method to image intracardiac flow stagnation for the risk stratification for thrombosisP198Magnetic resonance imaging of anomalous origin of the left coronary artery from the pulmonary artery in children older than 4 monthsP199Coronary flow reserve is improved by LDL apheresis in patients with familial hypercholesterolemia and chronic ischemic heart diseaseP200 High velocities in the proximal part of the coronary arteries during routine echocardiography can predict nearest prognosisP201Recovery potential of the right ventricular function in the setting of a first STEMI treated by primary PCI: an echocardiographic studyP202Severe aortic stenosis patients with preserved ejection fraction according to flow and gradient classification: prevalence and outcomesP203Is basal left ventricular ejection time able to predict the severity of aortic stenosis in patients with depressed ejection fraction?P204Acceleration time in aortic stenosis: a new echocardiographic diagnostic parameterP205Application of novel Doppler indices of stenosis severity in the assessment of rheumatic mitral stenosis beyond conventional valve area and transvalvular gradientsP206Comparison of conventional echo score in patients with symptomatic rheumatic mitral stenosis: transesophageal echocardiography versus transthoracic echocardiographyP207Speckle-tracking echocardiography in evaluation early left ventricular systolic dysfunction in asymptomatic aortic regurgitation patients with good left ventricular ejection fractionP208Expansible aortic ring annuloplasty: mid-term results of aortic valve repairP209Papillary muscle dysfunction: insights into mitral valve prolapse using speckle tracking imaging [O] . K. Kebed, TAMER Moustafa, R. Conte, 2016

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Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

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