A rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT.
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Description, pathophysiology, epidemiology, presentation, investigations, differential diagnosis, management, complications, prognosis, prevention and history.
Description, pathophysiology, epidemiology, presentation, investigations, differential diagnosis, management, complications, prognosis, prevention and history.
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Last update:
March 19, 2018 at 10:35:10 UTC
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Regional: Europe: United Kingdom: England: London: Islington: Education
- Recently edited by merlin1
- Recently edited by merlin1