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Innovative Therapy for Classic Galactosemia - Tale of Two HTS
Classic Galactosemia is an autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridylyltransferase (GALT), one of the key enzymes in the Leloir pathway of galactose metabolism. While the neonatal morbidity and mortality of the disease are now mostly prevented by newborn sc...
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| Main Authors: | , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3253915/ https://ncbi.nlm.nih.gov/pubmed/22018723 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.09.028 |
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