Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clini...

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Detalles Bibliográficos
Autores principales: Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., van Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., van der Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., de Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, van Hasselt, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317354/
https://www.ncbi.nlm.nih.gov/pubmed/31828787
http://dx.doi.org/10.1002/jimd.12193

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317354/
https://www.ncbi.nlm.nih.gov/pubmed/31828787
http://dx.doi.org/10.1002/jimd.12193

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