Rare Diseases

Current bibliography for experts

"Lyso-gb3" search results...

FABRY

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

FABRY

X-chromosomal inactivation patterns in women with Fabry disease

2022-09-10

This study investigates X-chromosomal inactivation patterns (XCI) as a potential determinant of symptom severity in women with Fabry disease (FD).

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

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.

FABRY

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

2021-04-13

The use of various biomarkers in Fabry disease may help the diagnosis of the disease and the early detection of organ injury, and provide more information on disease progression and prognosis.

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

FABRY

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

2020-03-01

The frequency of amenable mutations, related to phenotype, in a population of adult patients with Fabry Disease (FD) in Switzerland is investigated in this research. Further studies are needed to determine the long-term effects of migalastat therapy based on the enzyme activity achieved in different amenable mutations.

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