Rare Diseases

Current bibliography for experts

"Α-galaktosidaz A" search results...

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022-10-12

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

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

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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ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...