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Sweet and sour: an update on classic galactosemia
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved...
保存先:
| 出版年: | J Inherit Metab Dis |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Netherlands
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5391384/ https://ncbi.nlm.nih.gov/pubmed/28281081 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0029-3 |
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