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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Inherit Metab Dis |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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