Rare Diseases

Current bibliography for experts

"Scid" search results...

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.

ADA

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID

2020-02-01

Radiological features such as scapular spurring, scapular squaring and costochondral cupping can reliably differentiate between ADA-SCID and other forms of SCID.

ADA

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

2019-03-01

In this study, currently available evidence about ADA-SCID was reviewed and a consensus management strategy was proposed. The outcomes of novel strategies should be evaluated prospectively in real life conditions for the management guidelines.

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...