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Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients.

The relationship between a complete deficiency of the purine enzyme hypoxanthine-guanine phosphoribosyltransferase and the neurobehavioural abnormalities in Lesch-Nyhan disease remains an enigma. In vitro studies using lymphoblasts or fibroblasts have evaluated purine and pyrimidine metabolism with...

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Autors principals: Fairbanks, Lynette D, Jacomelli, Gabriella, Micheli, Vanna, Slade, Tina, Simmonds, H Anne
Format: Artigo
Idioma:Inglês
Publicat: 2002
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1222752/
https://ncbi.nlm.nih.gov/pubmed/11996669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20020148
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