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A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups

Classic galactosemia (CG) is a rare metabolic disorder that results from profound deficiency of galactose-1-P uridylyltransferase (GALT). Despite early detection by newborn screening and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to...

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Bibliografske podrobnosti
izdano v:J Inherit Metab Dis
Main Authors: Rasmussen, Shauna A., Daenzer, Jennifer M.I., Fridovich-Keil, Judith L.
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7855732/
https://ncbi.nlm.nih.gov/pubmed/32882063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12311
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