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

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

Content Provider	Semantic Scholar
Author	Cohen, Amos Staal, Gerard E. J. Ammann, Arthur J. Martin, Dwight W.
Copyright Year	1977
Abstract	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 patients being deplete of pyrophosphoribosylphosphate, a precursor of both purine, and pyrimidine nucleosides. It is suggested that the pyrophosphoribosyl-phosphate-depleted cells may be some component of the thymus-dependent immune system.
Starting Page	75
Ending Page	79
Page Count	5
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://dm5migu4zj3pb.cloudfront.net/manuscripts/108000/108800/JCI77108800.pdf
Alternate Webpage(s)	http://www.jci.org/articles/view/108800/version/1/pdf/render
PubMed reference number	406278v1
Volume Number	60
Issue Number	2
Journal	The Journal of clinical investigation
Language	English
Access Restriction	Open
Subject Keyword	Glutaric aciduria, type 1 Immunologic Deficiency Syndromes Orotic Acid Patients Phosphorylases Purine Nucleosides Purines Pyrimidine Nucleosides Pyrimidines Quantity Thymic Tissue cell type inorganic phosphate
Content Type	Text
Resource Type	Article

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