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LESCH-NYHAN SYNDROME AND RELATED PURINE METABOLISM DISORDERS

LESCH-NYHAN SYNDROME AND RELATED PURINE METABOLISM DISORDERS
LESCH-NYHAN 综合征及相关嘌呤代谢紊乱
批准号：
5221250
负责人：
WILLIAM L. NYHAN
金额：
$0.0万
依托单位：
--
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/5221250
关键词：
Lesch Nyhan syndrome clinical research genotype human population genetics human subject hyperuricemia hypoxanthine phosphoribosyltransferase isozymes molecular pathology phenotype purine /pyrimidine metabolism disorder sex linked trait

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中文摘要
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英文摘要
To study metabolism of purines in patients with hyperuricemia who have the Lesch-Nyhan syndrome and other disorders. To characterize variant HGPRT enzymes, genes and the phenotypes of patients in whom they are found. To characterize the nature of metabolic abnormality and its molecular site in patients with hyperuricemias other than those involving HGPRT and to study transmission of Lesch-Nyhan syndrome and the mutation rate for x-linked lethal gene using heterozygote detection.
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会议论文
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
DISORDERS OF FAT METABOLISM
LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS
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