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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
Autores principales: Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013/
https://www.ncbi.nlm.nih.gov/pubmed/25112391
http://dx.doi.org/10.1007/s10545-014-9755-y