Development, Validation, and Clinical Application of an HPLC-Based Method for Determining Adenosine Deaminase Activity in Adenosine Deaminase Deficiency-Severe Combined Immunodeficiency.

Abstract excerpt

BACKGROUND: Adenosine deaminase (ADA) deficiency is a rare genetic condition leading to severe combined immunodeficiency. Timely and accurate quantification of ADA activity is crucial for both diagnosis and treatment monitoring. This study describes the development and analytical validation of a high-performance liquid chromatography (HPLC)-based method for measuring ADA activity in dried blood spot (DBS)...

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