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...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Fischer, S. Taylor, Frederick, Allison B., Tran, ViLinh, Li, Shuzhao, Jones, Dean P., Fridovich-Keil, Judith L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup: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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