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Kinetic and metabolic studies in HPRT deficiency
The patient (T.K.), was first diagnosed as having a partial hypoxanthine-guanine phosphoribosyltransferase deficiency in 1978 when he was 20 years old. At presentation, he complained of a colicky loin-pain which radiated into his groin, and that he had had dark urine for a month. He was shown to hav...
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| Format: | Thesis |
| Language: | English |
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Division of Chemical Pathology
2018
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