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Congenital disorders of glycosylation: new defects and still counting
Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present as clinical syndromes, affecting multiple systems including the central nervous system, muscle function, transport, regulation, immu...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4141334/ https://ncbi.nlm.nih.gov/pubmed/24831587 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-014-9720-9 |
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