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Name: how to download wmv videos
Category: Free
Published: gregunabdrov1981
Language: English

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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 ). The gene for HGPRT has been mapped to position Xq2.6 (OMIM # 308000). The disease phenotype includes hyperuricemia, dystonia, choreoathetosis, hypertonia, hyperreflexia, varying degrees of cognitive impairment, and the hallmark symptom of severe self-mutilation. Bes > >neurological variants ; and (b) partial variants ( Nyhan 2004 ).
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Ignacio Pascual-Castroviejo Martino Ruggieri.

Lesch-Nyhan Syndrome.
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