LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS
LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS
批准号:
7950904
负责人:
WILLIAM L. NYHAN
金额:
$0.11万
依托单位国家:
美国
项目类别:
财政年份:
2008
资助国家:
美国
项目状态:
已结题
起止时间:
2008-12-01 至 2009-11-30
关键词:
Clinical ResearchComputer Retrieval of Information on Scientific Projects DatabaseDiseaseEnzyme GeneFundingGrantHPRT1 geneHeterozygote DetectionHyperuricemiaInstitutionLesch-Nyhan SyndromeLethal GenesLinkMetabolicMetabolic DiseasesMutationNaturePatientsPhenotypeResearchResearch PersonnelResourcesSourceUnited States National Institutes of HealthVariantmetabolic abnormality assessmentmolecular sitepurine metabolismtransmission process
中文摘要
该子项目是利用
由NIH/NCRR资助的中心赠款提供的资源。子项目和
研究者(PI)可能从另一个NIH来源获得主要资金,
因此可以在其他CRISP条目中表示。列出的机构是
中心,不一定是研究者的机构。
目的研究高尿酸血症合并莱-尼汉综合征及其他疾病患者的嘌呤代谢。描述HGPRT酶、基因变异及其患者的表型,描述除HGPRT以外的高尿酸血症患者代谢异常的性质及其分子位点,并研究Lesch-Nyhan综合征的传播和使用杂合子检测的X连锁致死基因突变率。
英文摘要
This subproject is one of many research subprojects utilizing the
resources provided by a Center grant funded by NIH/NCRR. The subproject and
investigator (PI) may have received primary funding from another NIH source,
and thus could be represented in other CRISP entries. The institution listed is
for the Center, which is not necessarily the institution for the investigator.
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.
期刊论文(0)
专著(0)
科研奖励(0)
会议论文
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
-
批准号:8166776
-
项目类别:
-
资助金额:$0.03万
-
财政年份:2009
-
负责人:WILLIAM L. NYHAN
-
依托单位:
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
-
批准号:7950905
-
项目类别:
-
资助金额:$0.23万
-
财政年份:2008
-
负责人:WILLIAM L. NYHAN
-
依托单位:
DISORDERS OF FAT METABOLISM
-
批准号:7950907
-
项目类别:
-
资助金额:$0.11万
-
财政年份:2008
-
负责人:WILLIAM L. NYHAN
-
依托单位:
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
-
批准号:7724869
-
项目类别:
-
资助金额:$0.27万
-
财政年份:2007
-
负责人:WILLIAM L. NYHAN
-
依托单位:
CLINICAL TRIAL: SAPROPTERIN EXPANDED ACCESS PROGRAM (SEAP)
-
批准号:7724974
-
项目类别:
-
资助金额:$0.18万
-
财政年份:2007
-
负责人:WILLIAM L. NYHAN
-
依托单位:
LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS
-
批准号:7606489
-
项目类别:
-
资助金额:$0.12万
-
财政年份:2006
-
负责人:WILLIAM L. NYHAN
-
依托单位:
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
-
批准号:7606490
-
项目类别:
-
资助金额:$0.23万
-
财政年份:2006
-
负责人:WILLIAM L. NYHAN
-
依托单位:
LESCH-NYHAN SYNDROME AND RELATED DISORDERS OF PURINE METABOLISM
-
批准号:7374122
-
项目类别:
-
资助金额:$0.11万
-
财政年份:2006
-
负责人:WILLIAM L. NYHAN
-
依托单位:
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
-
批准号:7374123
-
项目类别:
-
资助金额:$1.05万
-
财政年份:2006
-
负责人:WILLIAM L. NYHAN
-
依托单位:
Amino Acid Interrelationships in Human Metabolic Disease: Inborn Errors
-
批准号:7045361
-
项目类别:
-
资助金额:$2.6万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
Disorders of Fat Metabolism
-
批准号:7045363
-
项目类别:
-
资助金额:$0.06万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
Effect of Alanine Ingestion on Exercise Performance
-
批准号:7045455
-
项目类别:
-
资助金额:$1.71万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
Lesch-Nyhan Syndrome--Related Disorders of Purine Metab
-
批准号:7045360
-
项目类别:
-
资助金额:$0.08万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
Dichloroacetate in the Treatment of Congenital Lactic Acidemia
-
批准号:7045389
-
项目类别:
-
资助金额:$0.59万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
DISORDERS OF FAT METABOLISM
-
批准号:7205543
-
项目类别:
-
资助金额:$0.06万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
AMINO ACID INTERRELATIONSHIPS IN HUMAN METABOLIC DISEASE: INBORN ERRORS
-
批准号:7205541
-
项目类别:
-
资助金额:$1.71万
-
财政年份:2003
-
负责人:WILLIAM L. NYHAN
-
依托单位:
DISORDERS OF FAT METABOLISM
-
批准号:6117886
-
项目类别:
-
资助金额:$1.46万
-
财政年份:1998
-
负责人:WILLIAM L. NYHAN
-
依托单位:
AMINO ACID INTERRELATIONSHIPS IN METABOLIC DISEASE--INBORN ERRORS
-
批准号:6117883
-
项目类别:
-
资助金额:$1.46万
-
财政年份:1998
-
负责人:WILLIAM L. NYHAN
-
依托单位:
DISORDERS OF FAT METABOLISM
-
批准号:6249056
-
项目类别:
-
资助金额:$1.64万
-
财政年份:1997
-
负责人:WILLIAM L. NYHAN
-
依托单位:
DISORDERS OF FAT METABOLISM
-
批准号:6279081
-
项目类别:
-
资助金额:$1.43万
-
财政年份:1997
-
负责人:WILLIAM L. NYHAN
-
依托单位: