Rare Diseases

Current bibliography for experts

"Globotriaosylsfingosine" search results...

FABRY

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

2021-06-27

This study is the largest reported to date in Europe and presents data from long-term NBS for Fabry disease (FD) that reveals the current incidence of FD in northeastern Italy

FABRY

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease

2019-02-06

This article is a systematic review that includes 166 publications about enzyme replacement therapy (ERT) in the treatment of Fabry disease. When treatment is initiated early, better outcomes may be observed. There is a dose effect, according to the evidence. When data described in male patients, together with female and paediatric data, are evaluated, these inform clinical practice and therapeutic goals for individualized treatment.

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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...

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...