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

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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Bibliographic Details
Main Authors: Mariangela Succoio, Rosa Sacchettini, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Biomolecules
Subjects:
galactosemia
newborn screening
galactose metabolism
classical galactosemia
gene-based therapies
small molecules therapies
Online Access:https://www.mdpi.com/2218-273X/12/7/968

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https://www.mdpi.com/2218-273X/12/7/968

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