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The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening
Newborn screening (NBS) for classical galactosaemia (CG) facilitates early diagnosis and treatment to prevent life‐threatening complications, but remains controversial, and screening protocols vary widely between programmes. False‐negatives associated with first‐tier screening of total galactose met...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981414/ https://www.ncbi.nlm.nih.gov/pubmed/36873086 http://dx.doi.org/10.1002/jmd2.12339 |