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Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes

โœ Scribed by V. Micheli; S. Sestini; M. Rocchigiani; G. Jacomelli; F. Manzoni; L. Peruzzi; B.S. Gathof; E. Zammarchi; G. Pompucci


Book ID
117176274
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
653 KB
Volume
64
Category
Article
ISSN
0024-3205

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๐Ÿ“œ SIMILAR VOLUMES


Molecular basis of hypoxanthine-guanine
โœ R.J. Torres; F.A. Mateos; J. Molano; B.S. Gathoff; J.P. O'Neill; R.M. Gundel; L. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 30 KB

We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described.

Hypoxanthine-guanine phosphoribosyltrans
โœ Donna G. Sculley; Paul A. Dawson; Ifor R. Beacham; Bryan T. Emmerson; Ross B. Go ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 552 KB

The Lesch-Nyhan syndrome is a severe X chromosome-linked human disease caused by a virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. A partial deficiency in the activity of this enzyme can result in gouty arthritis. To determine the genetic basis for reduction or los