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Article

Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2).

Medicina clinica - 23 Sept 2022

Abbasi Adrián, Batllori Marta, Gil-Sáez Francisco Jose, Rodríguez-Pintó Ignasi, Antón López Jordi, Iglesias Jímenez Estíbaliz

Abstract excerpt

OBJECTIVE: To describe the usefulness of determining the enzymatic activity of adenosine deaminase 2 (ADA2) in patients with suspected ADA2 deficiency (DADA2). METHOD: Retrospective multicenter study. Review with analysis of the clinical, biochemical and genetic data of the patients in whom the enzymatic activity of ADA2 has been determined by spectrophotometric method. RESULT: In 3 of the 20 patients, the...

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Identifiers

PMID: 35241284
DOI: 10.1016/j.medcli.2021.12.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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