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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...
Autores principales: | Succoio, Mariangela, Sacchettini, Rosa, Rossi, Alessandro, Parenti, Giancarlo, Ruoppolo, Margherita |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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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