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. 2021 May 6;59(10):e401-e404.
doi: 10.1515/cclm-2021-0307. Print 2021 Sep 27.

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program

Sabrina Malvagia  1 , Silvia Funghini  1 , Maria Della Bona  1 , Daniela Ombrone  1 , Massimo Mura  1 , Roberta Damiano  1 , Silvia Ricci  2   3 , Martina Cortimiglia  2 , Chiara Azzari  2   3 , Giancarlo la Marca  1   4
Affiliations

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program

Sabrina Malvagia et al. Clin Chem Lab Med. .
No abstract available

Keywords: T-cell receptor excision circles (TREC); adenosine deaminase (ADA); kappa-deleting excision circles (KREC); newborn screening; severe combined immunodeficiency (SCID); tandem mass spectrometry.

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References

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    1. Hershfield, MS, Mitchell, BS. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In: Scriver, CR, AL Beaudet, WS S, Valle, D, editors. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill; 1995:1725–68 pp.
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    1. Gaspar, HB, Hammarström, L, Mahlaoui, N, Borte, M, Borte, S. The case for mandatory newborn screening for severe combined immunodeficiency (SCID). J Clin Immunol 2014;34:393–7. https://doi.org/10.1007/s10875-014-0029-0.
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