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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Udgivet i:J Inherit Metab Dis
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7317354/
https://ncbi.nlm.nih.gov/pubmed/31828787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12193
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