Rare Diseases

Current bibliography for experts

"Fabry Hastalığı" search results...

FABRY

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

2022-05-01

Precise clinical evaluation in individuals diagnosed with genetic variations of unknown significance should be performed to distinguish common symptoms broadly prevalent in the general population from those secondary to Fabry disease.

FABRY

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

2022-04-01

A panel of Fabry disease (FD) specialists convened to study how expertise may compare with the traditional approach.

FABRY

Multidisciplinary Management of Fabry Disease: Current Perspectives

2022-03-10

This review aims to describe the clinical features and the current perspectives in the multidisciplinary management of Fabry disease (FD) patients.

FABRY

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective

2022-03-01

This consensus statement aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD.

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

Cognitive dysfunction and white matter hyperintensities in Fabry disease

2022-01-07

Neuropsychological assessment and rehabilitation should be routinely offered to patients with Fabry Disease.

FABRY

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and MetaAnalysis

2022-01-01

This meta-analysis is performed according to previous studies to review the benefit of ERT for LVH improvement in Fabry patients. Based on the currently available data, this meta-analysis showed that there are beneficial effects on LVH improvement with ERT in Fabry disease patients.

FABRY

Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy

2022-01-01

Growth Differentiation Factor-15 (GDF-15) and Syndecan-1 were associated with parameters of cardiac and renal involvement in classic Fabry disease patients on enzyme replacement therapy (ERT). Their potential association with residual risk and disease outcomes should be investigated.

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.

FABRY

First manifestation of Fabry's disease by psychotic episode associated with thalamic ischemic stroke

2021-12-27

The inclusion of psychiatric exploration and screening in the routine examination of patients with Fabry's disease as well as a brain MRI on initial diagnosis of Fabry's disease should be considered.

FABRY

Ion channels and pain in Fabry disease

2021-12-01

Ion channel alterations could provide targets for improved therapies in pain for Fabry disease patients.

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