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- Title
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
- Authors
Malvagia, Sabrina; Funghini, Silvia; Della Bona, Maria; Ombrone, Daniela; Mura, Massimo; Damiano, Roberta; Ricci, Silvia; Cortimiglia, Martina; Azzari, Chiara; la Marca, Giancarlo
- Abstract
Adenosine deaminase (ADA), kappa-deleting excision circles (KREC), newborn screening, severe combined immunodeficiency (SCID), tandem mass spectrometry, T-cell receptor excision circles (TREC) Keywords: adenosine deaminase (ADA); kappa-deleting excision circles (KREC); newborn screening; severe combined immunodeficiency (SCID); tandem mass spectrometry; T-cell receptor excision circles (TREC) EN adenosine deaminase (ADA) kappa-deleting excision circles (KREC) newborn screening severe combined immunodeficiency (SCID) tandem mass spectrometry T-cell receptor excision circles (TREC) e401 e404 4 09/08/21 20210901 NES 210901 To the Editor, Adenosine deaminase (ADA) deficiency is a known cause for severe combined immunodeficiency (SCID).
- Subjects
TUSCANY (Italy); NEWBORN screening; SEVERE combined immunodeficiency; PRIMARY immunodeficiency diseases; TANDEM mass spectrometry; ENZYME replacement therapy; INFANTS
- Publication
Clinical Chemistry & Laboratory Medicine, 2021, Vol 59, Issue 10, pe401
- ISSN
1434-6621
- Publication type
Letter
- DOI
10.1515/cclm-2021-0307