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Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galacto...

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Detalles Bibliográficos
Autores principales:	Cohen, Arieh S., Baurek, Marta, Lund, Allan M., Dunø, Morten, Hougaard, David M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510209/ https://www.ncbi.nlm.nih.gov/pubmed/33072978 http://dx.doi.org/10.3390/ijns5020019

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