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TOWARDS A THERAPY FOR PHOSPHOMANNOMUTASE 2 DEFECIENCY, THE DEFECT IN CDG-Ia PATIENTS
Phosphomannomutaste (PMM2, Mannose-6-P→ Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for the hundreds of patients who suffer from this disorder. This review describes previous attempts at therapeutic interventions and...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2783247/ https://ncbi.nlm.nih.gov/pubmed/19339218 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2009.01.004 |
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