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Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease

Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction. However, uric acid is not responsible for brain dysfunction, and it has been suggested that purine nucleotide depletion, or accumulation of ot...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: López, José M., Outtrim, Esther L., Fu, Rong, Sutcliffe, Diane J., Torres, Rosa J., Jinnah, H. A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7275668/
https://ncbi.nlm.nih.gov/pubmed/32430324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2003475117
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