Lesch-Nyhan Syndrome and the X-Linked Uric Acidurias
作者:
SeegmillerJ. Edwin,
期刊:
Hospital Practice
(Taylor Available online 1972)
卷期:
Volume 7,
issue 4
页码: 79-90
ISSN:2154-8331
年代: 1972
DOI:10.1080/21548331.1972.11706178
出版商: Taylor&Francis
数据来源: Taylor
摘要:
In the few years since Lesch-Nyhan syndrome was first described, the enzyme defect responsible for its excessive purine synthesis has been identified and also found, in a lesser degree, among certain patients with gout. Clarification of the inheritance pattern has also helped confirm the Lyon hypothesis and opened the way to prevention through screening of possible carriers, amniocentesis, and selective abortion.
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