Rare Diseases

Current bibliography for experts

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GAUCHER

The definition of neuronopathic Gaucher disease

2021-08-02

In this article, the various forms of Gaucher disease are defined with particular emphasis on the presence of gaze palsy in all patients with Neuronopathic Gaucher disease (nGD).

XLH

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

2020-10-01

Burosumab, a recombinant human IgG1 monoclonal antibody, has been shown to improve phosphate homeostasis, which resolves the skeletal and non-skeletal manifestations of X-linked hypophosphataemia (XLH), in clinical trials (phases 2 and 3).

ADA-SCID

Urogenital Abnormalities in Adenosine Deaminase Deficiency

2020-05-01

According to our findings, it is essential to include urogenital evaluation in ADA-SCID patients to detect any abnormalities, initiate early treatment, and prevent long-term complications.

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...