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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...
Tallennettuna:
| Päätekijät: | , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2002
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| Aiheet: | |
| Linkit: | 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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