Rare Diseases

Current bibliography for experts

"Fabry Disease" search results...

FABRY

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

2021-11-16

Long-read Oxford Nanopore sequencing technology can be used as an efficient and cost-effective tool for screening and diagnosing Fabry disease.

FABRY

Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing

2021-10-01

This review focuses on the current state of gene therapy as it is being developed for Fabry disease, including progresses and challenges as well as an overview of gene-editing and how it may be applied to correct Fabry disease-causing mutations in the future.

FABRY

Podocyturia in Fabry disease: A 10-year follow-up

2021-09-16

Podocyturia is considered as a non-invasive early marker of kidney injury in Fabry disease, but it should be kept in mind that podocyturia is a discontinuous event with wide variability.

FABRY

Current and experimental therapeutics for Fabry disease

2021-09-01

The focus of this review is describing the in vitro and the in vivo experimental models of Fabry disease, to highlight the relevance in improving the existing therapeutics and understand the mechanism of this rare disorder.

FABRY

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)

2021-08-22

According to the findings of this study, strain abnormalities occur early beside native T1 reductions in cardiac FD involvement.

FABRY

Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis

2021-08-16

This analysis suggests that prompt treatment initiation with agalsidase alfa provided better renal and cardiovascular outcomes than delayed treatment in patients with Fabry disease.

FABRY

Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy

2021-08-13

In this paper, the importance of electron microscopy is highlighted and histological features common to Fabry nephropathy and minimal change disease (MCD) are discussed

FABRY

Detailed Phenotype of GLA Variants

2021-08-12

The findings of this study underline the importance of detailed phenotype description and data sharing in the correct identification of pathogenicity of gene variants detected by high-risk-population screening programs.

FABRY

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

2021-08-04

Regardless of treatment status, sex or phenotype, individuals with Fabry disease and amenable GLA variants who received long-term migalastat therapy (≤8.6 years) preserved renal function.

FABRY

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease

2021-07-30

According to the findings of this study, Let-7a and Let-7d may be useful indicators for enzyme activity and inflammation in Fabry disease patients.

FABRY

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

2021-06-27

This study is the largest reported to date in Europe and presents data from long-term NBS for Fabry disease (FD) that reveals the current incidence of FD in northeastern Italy

FABRY

Precision Medicine in Fabry Disease

2021-06-22

In Fabry disease, precision medicine practices can enable physicians to predict more accurately which prevention and treatment strategy is best for which patient.

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