Rare Diseases

Current bibliography for experts

"Adenosine Deaminase Deficiency" search results...

ADA

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants

2025-01-01

This study systematically assessed the pathogenic potential of 46 rare ADA missense variants by expressing them in an Escherichia coli system.

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

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.

ADA

Adenosine deaminase deficiency: A review

2018-04-24

This article reviews the biology, clinical presentation, diagnosis and treatment of adenosine deaminase (ADA) deficiency.

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...

European Congress on Rare Diseases and Orphan Drugs

One of the leading events in the field of rare diseases and orphan drugs, the European Congress on Rare Diseases and Orp...

I-PAS Academy

I-PAS Academy, of which Gene2Info is one of the sponsors, will be held in Muğla between October 24-26, 2025.

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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...