Publications by authors named "Francisco Jose Gil-Saez"
Med Clin (Barc)
September 2022
Article Synopsis
- - The study aims to highlight the importance of measuring adenosine deaminase 2 (ADA2) enzyme activity in diagnosing suspected ADA2 deficiency (DADA2).
- - In a review of 20 patients, DADA2 was confirmed in three cases through low ADA2 activity and genetic mutations, while it was ruled out in two patients with uncertain genetic variants.
- - The findings suggest that reduced ADA2 activity is a key indicator for diagnosing DADA2, especially for individuals with ambiguous genetic results.
