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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318568/
https://www.ncbi.nlm.nih.gov/pubmed/31845342
http://dx.doi.org/10.1002/jimd.12205

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