Rare Diseases

Current bibliography for experts

"Covid-19" search results...

GAUCHER

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

2022-08-29

It should be borne in mind that cardiac and pulmonary involvement, as well as immune dysfunction in LSDs, may cause an increased need for intensive care because of secondary bacterial infections.

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

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: A cohort description

2022-03-04

In the light of this research, it is aimed to gather information about the course of SARS-CoV-2 infection and side effects of COVID-19 vaccinations in patients with Glycogen Storage Disease type II (GSDII).

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.

POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

2021-12-20

This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

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.

POMPE

The impact of interrupting enzyme replacement therapy in late‑onset Pompe disease

2021-02-24

This study aimed to analyse the impact of ERT interruption on clinical outcome of LOPD patients. As a result, interruption of ERT was associated with a worsening of the objective outcome measures. Therefore, an interruption of ERT in LOPD should be kept as short as possible.

GAUCHER

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

2021-01-01

The aim of this study was to evaluate the determinants of SARS CoV-2 infection in Gaucher disease (GD) patients. The findings indicated that, despite the chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.

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.

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