Rare Diseases

Current bibliography for experts

"Migalastat" search results...

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

FABRY

Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists

2022-09-28

It is aimed to review which biomarkers are useful for nephropathy follow-up among Fabry "amenable" patients receiving migalastat.

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

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

Developments in the treatment of Fabry disease

2020-09-01

This review summarizes what is known about present and prospective future therapy options for Fabry disease.

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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