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Metabolic perturbations in classic galactosemia beyond the Leloir pathway: insights from an untargeted metabolomic study
Classic galactosemia (CG) is an autosomal recessive disorder that impacts close to 1/50,000 live births in the United States, with varying prevalence in other countries. Following exposure to milk, which contains high levels of galactose, affected infants may experience rapid onset and progression o...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Inherit Metab Dis |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6414239/ https://ncbi.nlm.nih.gov/pubmed/30667068 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12007 |
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