A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A high-throughput nucleic acid-based method in newborn screening (NBS) has been shown to b...

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Detalles Bibliográficos
Autores principales: Tesorero, Rafael, Janda, Joachim, Hörster, Friederike, Feyh, Patrik, Mütze, Ulrike, Hauke, Jana, Schwarz, Kathrin, Kunz, Joachim B., Hoffmann, Georg F., Okun, Jürgen G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10004496/
https://www.ncbi.nlm.nih.gov/pubmed/36897914
http://dx.doi.org/10.1371/journal.pone.0283024

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