Lesch-Nyhan syndrome

释义

HGPRT缺损；

[Lesch-Nyhan syndrome].
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome.
Lesch–Nyhan syndrome
The lesch nyhan syndrome
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
The Lesch-Nyhan syndrome.
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features
Clinical features of the Lesch-Nyhan syndrome.
Hemizygous expression of G6PD in erythrocytes of heterozygous for Lesch-Nyhan syndrome
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.