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Development of dried blood spot quality control materials for adenosine deaminase severe combined immunodeficiency and an LC-MS/MS method for their characterization

Adenosine deaminase severe combined immunodeficiency (ADA-SCID) is an autosomal recessive disorder in which a lack of ADA enzyme prevents the maturation of T- and B-cells; early intervention is crucial for restoring immune function in affected neonates. ADA is responsible for purine metabolism and—i...

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Detalles Bibliográficos
Autores principales: Young, Brian, Hendricks, Jessica, Foreman, David, Pickens, C. Austin, Hovell, Candice, De Jesús, Víctor R., Haynes, Christopher, Petritis, Konstantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040805/
https://www.ncbi.nlm.nih.gov/pubmed/33851028
http://dx.doi.org/10.1016/j.clinms.2020.07.002