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Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.

The urines of two unrelated children with inherited deficiencies of purine nucleoside phosphorylase have been found to contain significant quantities of orotic acid in addition to the previously reported purine nucleosides. The data are consistent with some cell types of these immunodeficient patien...

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Pubblicato in:J Clin Invest
Autori principali: Cohen, A, Staal, G E, Ammann, A J, Martin, D W
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1977
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC372392/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/406278/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI108800
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