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Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program

Phenylketonuria (PKU) was the first disorder for which newborn screening (NBS) was introduced in the early 1960s. Slovenia started the NBS program for PKU in 1979, and the fluorimetric method was implemented in 1992, with a phenylalanine (Phe) cut-off set at 120 mol/L. This value has been in use for...

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Detalles Bibliográficos
Autores principales: Perko, Dasa, Repic Lampret, Barbka, Remec, Ziga Iztok, Zerjav Tansek, Mojca, Drole Torkar, Ana, Krhin, Blaz, Bicek, Ajda, Oblak, Adrijana, Battelino, Tadej, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955183/
https://www.ncbi.nlm.nih.gov/pubmed/35328070
http://dx.doi.org/10.3390/genes13030517