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Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review
Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. Whi...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5509556/ https://ncbi.nlm.nih.gov/pubmed/27502837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_5 |
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