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...

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Detalles Bibliográficos
Autores principales: Bernhardt, Isaac, Glamuzina, Emma, Ryder, Bryony, Knoll, Detlef, Heather, Natasha, De Hora, Mark, Webster, Dianne, Wilson, Callum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
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

Internet

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

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