ASSESSMENT OF ATAXIA PHENOTYPE IN A NEW MOUSE MODEL OF GALACTOSE-1 PHOSPHATE URIDYLYLTRANSFERASE (GALT) DEFICIENCY

Despite adequate dietary management, patients with Classic Galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mou...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Chen, Wyman, Caston, Rose, Balakrishnan, Bijina, Siddiqi, Anwer, Parmar, Kamalpreet, Tang, Manshu, Feng, Merry, Lai, Kent
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5203948/
https://ncbi.nlm.nih.gov/pubmed/27783170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9993-2
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