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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic diseases (IMDs) can technically be included, and...

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Detalles Bibliográficos
Autores principales: Veldman, Abigail, Kiewiet, M. B. Gea, Westra, Dineke, Bosch, Annet M., Brands, Marion M. G., de Coo, René I. F. M., Derks, Terry G. J., Fuchs, Sabine A., van den Hout, Johanna. M. P., Huidekoper, Hidde H., Kluijtmans, Leo A. J., Koop, Klaas, Lubout, Charlotte M. A., Mulder, Margaretha F., Panis, Bianca, Rubio-Gozalbo, M. Estela, de Sain-van der Velden, Monique G., Schaefers, Jaqueline, Schreuder, Andrea B., Visser, Gepke, Wevers, Ron A., Wijburg, Frits A., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594494/
https://www.ncbi.nlm.nih.gov/pubmed/37873847
http://dx.doi.org/10.3390/ijns9040056