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Lesch-Nyhan disease
The role of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in the grand scheme of purine metabolism
Created by J.E. Visser, MD, PhD and H.A. Jinnah, MD, PhD; used with permission
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Lesch-Nyhan disease
Uric acid levels in patients with classic Lesch-Nyhan disease (LND), patients with Lesch-Nyhan variants (LNV), and healthy controls. SD, standard deviation; HRH: hypoxanthine-guanine phosphoribosyltransferase (HPRT)-related hyperuricemia; HRD: HPRT-related neurological disease
From the collection of J.E. Visser, MD, PhD and H.A. Jinnah, MD, PhD; used with permission
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Lesch-Nyhan disease
Phenotypic spectrum associated with hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. HRH: HPRT-related hyperuricaemia; HND: HPRT-related neurological disease; LND: Lesch-Nyhan disease
From the collection of J.E. Visser, MD, PhD and H.A. Jinnah, MD, PhD; used with permission
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Lesch-Nyhan disease
Examples of self-injurious behaviour seen in patients with classic Lesch-Nyhan disease
From the collection of H.A. Jinnah, MD, PhD; used with permission
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