A galactose‐1‐phosphate uridylyltransferase‐null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue‐specific and longitudinal differences in galactose metabolism

Classic galactosemia (CG) is a potentially lethal inborn error of metabolism, if untreated, that results from profound deficiency of galactose‐1‐phosphate uridylyltransferase (GALT), the middle enzyme of the Leloir pathway of galactose metabolism. While newborn screening and rapid dietary restrictio...

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發表在:J Inherit Metab Dis
Main Authors: Rasmussen, Shauna A., Daenzer, Jennifer M. I., MacWilliams, Jessica A., Head, S. Taylor, Williams, Martine B., Geurts, Aron M., Schroeder, Jason P., Weinshenker, David, Fridovich‐Keil, Judith L.
格式: Artigo
語言:Inglês
出版: John Wiley & Sons, Inc. 2019
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Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7318568/
https://ncbi.nlm.nih.gov/pubmed/31845342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12205
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