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Adenylosuccinate lyase deficiency
Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by the presence in the biologic fluids of two dephospho...
Guardado en:
| Publicado en: | J Inherit Metab Dis |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Springer Netherlands
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4341013/ https://ncbi.nlm.nih.gov/pubmed/25112391 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-014-9755-y |
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