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...
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: | |
Online Access: | https://www.mdpi.com/2218-273X/12/7/968 |
Similar Items
-
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta
by: Nihal Almenabawy, et al.
Published: (2024-03-01) -
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
by: Hui-An Chen, et al.
Published: (2024-03-01) -
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience
by: Mohammadreza Alaee, et al.
Published: (2025-02-01) -
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
by: Atsuo Kikuchi, et al.
Published: (2021-10-01) -
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
by: Bianca Panis, et al.
Published: (2024-02-01)