Article
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population
2025-01-16
Abstract excerpt
The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023 – Phase I including 24,130 newborns in Lisbon and Setubal districts; Phase II in...
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Identifiers and source
- Literature Corpus work
- 24bc59ea-bad4-58c6-b41c-2a1082ed667a
- DOI
- 10.20944/preprints202501.1207.v1
