Lesch-Nyhan syndrome historical perspective: Difference between revisions
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Created page with "{{Lesch-Nyhan syndrome}} {{CMG}}; {{AE}} {{AN}} ==Historical perspective== It was first described in 1964 by Dr. Michael Lesch and [[William Nyhan|Dr. Willi..." |
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{{CMG}}; {{AE}} {{AN}} | {{CMG}}; {{AE}} {{AN}} | ||
== | ==Overview== | ||
It was first described in 1964 by [[Michael Lesch|Dr. Michael Lesch]] and [[William Nyhan|Dr. William Nyhan]].<ref> Ole Daniel Enersen. [http://www.whonamedit.com/synd.cfm/2175.html Lesch-Nyhan syndrome or disease.] [[Who Named It]]. Retrieved on 2007-05-27.</ref> | It was first described in 1964 by [[Michael Lesch|Dr. Michael Lesch]] and [[William Nyhan|Dr. William Nyhan]].<ref> Ole Daniel Enersen. [http://www.whonamedit.com/synd.cfm/2175.html Lesch-Nyhan syndrome or disease.] [[Who Named It]]. Retrieved on 2007-05-27.</ref> | ||
==Historical Perspective== | |||
*The enzymatic defect associated with Lesch-Nyhan disease, deficiency of the enzyme [[hypoxanthine-guanine phosphoribosyl transferase]] ([[HGPRT]]), was discovered by Seegmiller and colleagues in 1967. | |||
*The gene encoding the human enzyme was cloned and sequenced by Friedmann and colleagues in 1985. | |||
==References== | ==References== | ||
Revision as of 16:27, 14 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
It was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan.[1]
Historical Perspective
- The enzymatic defect associated with Lesch-Nyhan disease, deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HGPRT), was discovered by Seegmiller and colleagues in 1967.
- The gene encoding the human enzyme was cloned and sequenced by Friedmann and colleagues in 1985.
References
- ↑ Ole Daniel Enersen. Lesch-Nyhan syndrome or disease. Who Named It. Retrieved on 2007-05-27.