A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
Maria-Luz CouceMaría-Dolores BóvedaDaisy E CastiñeirasMaría-Eugenia Vázquez-MosqueraSofía Barbosa-GouveiaMaría-José De CastroAgustin J Iglesias-RodríguezCristóbal ColónJosé A CochoPaula SánchezPublished in: Orphanet journal of rare diseases (2024)
This study highlights the benefits of collecting urine samples, reduce NBS reporting time and expanding the number of IEMs included in NBS programmes.