Rare Diseases

Current bibliography for experts

"Chronic Kidney Disease" search results...

FABRY

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

2022-09-01

This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease.

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.

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.

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

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

2021-04-13

The use of various biomarkers in Fabry disease may help the diagnosis of the disease and the early detection of organ injury, and provide more information on disease progression and prognosis.

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...