Rare Diseases

Current bibliography for experts

"Echocardiography" search results...

FABRY

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

2022-02-01

Start of treatment with enzyme replacement therapy (ERT) before age 16, in male classical Fabry disease (cFD) patients, is associated with reduced occurrence of renal and cardiac manifestations of Fabry disease (FD), as assessed by intermediate endpoints.

FABRY

Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease

2022-01-22

The goal of this study was to look at electrocardiographic (ECG) characteristics in FD patients to see if there were any gender differences, as well as to see if ECG parameters were linked to structural and functional changes on transthoracic echocardiography (TTE).

FABRY

Blood Pressure Variability in Fabry Disease Patients

2022-01-01

In this study, it is aimed to examine the circadian variations of blood pressure (BP) and heart rate variability in Fabry disease patients.

MPS

Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: An echocardiographic study

2021-08-09

A systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation.

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

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