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2008
Lesch- Nyhan syndrome (LNS) is a rare X-linked disorder of purine metabolism associated with hyperuricemia and caused by absence or near complete absence of the enzyme hypoxanthine- guanine phosphoriboxyl transferase (HGPRT), essential for purine salvage (Nyhan 2004, Seegmiller et al. 1967, Torres and Puig 2007).
Ignacio Pascual-Castroviejo +1 more
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Lesch- Nyhan syndrome (LNS) is a rare X-linked disorder of purine metabolism associated with hyperuricemia and caused by absence or near complete absence of the enzyme hypoxanthine- guanine phosphoriboxyl transferase (HGPRT), essential for purine salvage (Nyhan 2004, Seegmiller et al. 1967, Torres and Puig 2007).
Ignacio Pascual-Castroviejo +1 more
openaire +1 more source
A potential animal model for Lesch–Nyhan syndrome through introduction of HPRT mutations into mice
Nature, 1987Allan Bradley
exaly