Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

Developmental retardation was a prominent clinical feature in six infants from three kindreds deficient in the enzyme purine nucleoside phosphorylase (PNP) and was present before development of T cell immunodeficiency. Guanosine triphosphate (GTP) depletion was noted in the erythrocytes of all survi...

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Bibliographic Details
Main Authors: Simmonds, H A, Fairbanks, L D, Morris, G S, Morgan, G, Watson, A R, Timms, P, Singh, B
Format: Artigo
Language:Inglês
Published: 1987
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1778361/
https://ncbi.nlm.nih.gov/pubmed/2439024
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