Lesch-Nyhan syndrome: A case report
Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. It is a rare anomaly consisting of deficiency in the production of hypoxanthine phosphoribosyltransferase that lea...
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Wolters Kluwer Medknow Publications,
2008-05-01T00:00:00Z.
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Internet
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A1234.567 |
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| Kopie 1 | Beschikbaar |