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Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia
Classic galactosemia is a potentially lethal disorder that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Although early diagnosis and rigorous dietary restriction of galactose prevent or resolve...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3657299/ https://ncbi.nlm.nih.gov/pubmed/23319291 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9575-x |
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