IMMUNOLOGY OF LESCH-NYHAN SYNDROME
โ Scribed by Czlonkowska, Anna; Zdzienicka-Tulczynska, Elzbieta
- Book ID
- 123283479
- Publisher
- The Lancet
- Year
- 1976
- Tongue
- English
- Weight
- 139 KB
- Volume
- 307
- Category
- Article
- ISSN
- 0140-6736
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๐ SIMILAR VOLUMES
Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenin
A patient with clearly developed features of the full Lesch-Nyhan syndrome and complete lack of activity of hypoxynthine-phosphoribosyltransferase is described. The clinical picture was characterized by absence of spasticity, good control of autoaggression by behavior therapy, and no signs of renal