Disparate Enzyme Activity in Erythrocytes and Leukocytes. A VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYME

A family is reported in which each of two sisters has a son with no detectable hypoxanthine phosphoribosyltransferase (HPRT) (EC 2. 4. 2. 8) in his erythrocytes, a finding considered pathognomonic of Lesch-Nyhan disease. However, neither has the stigmata of the disease. One boy is neurologically nor...

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Pubblicato in:	J Clin Invest
Autori principali:	Dancis, Joseph, Yip, Lily C., Cox, Rody P., Piomelli, Sergio, Balis, M. Earl
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1973
Soggetti:	Articles
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC302489/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4352580/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107391
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