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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...
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Online Άρθρο Κείμενο |
| Γλώσσα: | English |
| Έκδοση: |
Springer Netherlands
2014
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| Θέματα: | |
| Διαθέσιμο Online: | 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 |