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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...
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| Publicado no: | J Inherit Metab Dis |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Netherlands
2014
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| Assuntos: | |
| Acesso em linha: | 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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