PPT-Lesch
Author : trish-goza | Published Date : 2016-11-06
Nyhan Syndrome and SelfInjurious Behavior Alexa Pereira Lesch Nyhan syndrome A rare Xlinked recessively inherited disorder Affects 1 in 380000 births First described
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Lesch: Transcript
Nyhan Syndrome and SelfInjurious Behavior Alexa Pereira Lesch Nyhan syndrome A rare Xlinked recessively inherited disorder Affects 1 in 380000 births First described in 1964 A disorder of the enzyme hypoxanthineguanine . K F LESCH AND J D W ILSON Department of Earth and Atmospheric Sciences University of Alberta Edm onton Alberta Canada L A H ARPER Agricultural Research Service USDA Watkinsville Georgia Manuscript received 26 April 2004 in final form 30 September 20 Purine catabolism. Purine degradation. Purine Salvage Pathway. From normal turnover of cellular nucleic acids. Obtained from the diet. Reutilization of adenine, hypoxanthine, and guanine. Two enzymes:. HPRT1 . Gene. Billy Maes. What is Lesch-Nyhan Syndrome?. Gouty arthritis. Kidney stones. Loss of motor control. Cognitive problems. Self-mutilation. What is Lesch-Nyhan Syndrome?. https://. youtu.be/1U6LDpF_LFE?t=58s.
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