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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Dades bibliogràfiques
Publicat a:J Inherit Metab Dis
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2019
Matèries:
Original Articles
Accés en línia: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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