Rare Diseases

Current bibliography for experts

"Coronavirus" search results...

FABRY

COVID-19 in Fabry disease: A reference center prospective study

2022-06-28

In this study, it was investigated whether coronavirus infection poses a particular risk for Fabry patients.

POMPE

COVID-19 infection in patients with late-onset Pompe disease

2021-12-24

Individuals with late-onset Pompe disease (LOPD) remain at high risk and should receive COVID-19 vaccinations and exercise precautions to avoid exposure to COVID-19 infection.

GAUCHER

No association of Gaucher Disease with COVID-19-related outcomes: A nationwide cohort study

2021-12-23

According to our national data, SARS-CoV-2 infection in patients with Gaucher disease does not have a more severe course than the normal population.

GAUCHER

SARS-CoV-2 infection and COVID‒19 in Gaucher disease: indications for vaccination

2021-06-13

We review here the current concepts of Gaucher disease and SARS-CoV-2 infection, focusing particularly on general prevention and vaccination.

FABRY

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued?

2020-08-01

COVID-19's effect on Fabry disease patients who are getting enzyme replacement therapy is currently unknown, however they may be at a high risk of serious consequences. In patients with Fabry disease, home-therapy appears to be the most efficient strategy to maintain enzyme replacement therapy access during the pandemic.

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

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

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...