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Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an au...

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Detalles Bibliográficos
Autores principales: Succoio, Mariangela, Sacchettini, Rosa, Rossi, Alessandro, Parenti, Giancarlo, Ruoppolo, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313126/
https://www.ncbi.nlm.nih.gov/pubmed/35883524
http://dx.doi.org/10.3390/biom12070968

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