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• W2073089939 abstract "A deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is associated with a varying clinical picture which may include hyperuricaemia, neurological abnormalities and bizarre self-multilating behaviour. Due to technical problems with the usualin vitro enzyme assays, it has not been possible to establish a correlation between the degree of the enzyme deficiency and the severity of the clinical manifestations. In this study, the HGPRT activity of 12 patients with various clinical features was measured by quantitative analysis of the incorporation of radioactive precursors into purine compounds in intact fibroblasts. The results demonstrate that a correlation between the severity of the clinical symptoms and the degree of the enzyme deficiency as measured in intact fibroblasts does in fact exist." @default.
• W2073089939 created "2016-06-24" @default.
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• W2073089939 date "1981-12-01" @default.
• W2073089939 modified "2023-09-27" @default.
• W2073089939 title "Hypoxanthine‐guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activity" @default.
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• W2073089939 doi "https://doi.org/10.1007/bf02263652" @default.
• W2073089939 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/6796771" @default.
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