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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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Detalles Bibliográficos
Publicado en:J Inherit Metab Dis
Autores principales: Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Netherlands 2014
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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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