Rare Diseases

Current bibliography for experts

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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.

FABRY

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

2019-03-05

A major challenge in the clinical phenotyping of patients with Fabry disease is the differential diagnosis between its nonspecific cerebrovascular, cardiac and renal complications, and similar chronic illnesses that are common in the general population. Therefore, comprehensive phenotyping is crucial for grading the severity of pathogenic GLA variants.

News and Events

ASHG 2025

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

ESHG - Avrupa İnsan Genetiği Konferansı 2025

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World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

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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...