CHARACTERIZATION OF ENZYME DEFECTS IN HUMAN PORPHYRIAS

人类卟啉症酶缺陷的表征

• 批准号: 7719167
• 负责人: KARL ELMO ANDERSON
• 金额: $ 1.99万
• 依托单位: UNIVERSITY OF TEXAS MED BR GALVESTON
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-01 至 2009-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7719167
• 关键词: Aminolevulinic Acid; Computer Retrieval of Information on Scientific Projects Database; DNA analysis; Defect; Enzymes; Erythrocytes; Family; Feces; Funding; Genes; Grant; Heme; Human; Hydroxymethylbilane Synthase; Institution; Measurement; Methods; Mutation; Patients; Plasma; Porphobilinogen; Porphyrias; Porphyrins; Protocols documentation; Purpose; Research; Research Personnel; Resources; Source; United States National Institutes of Health; Urine; enzyme pathway

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. The purpose is to characterize enzyme defects in patients with known or suspected porphyria and their families. Methods include measurement of porphobilinogen deaminase and porphyrins in erythrocytes, porphyrins and porphyrin precursors (delta-aminolevulinic acid and porphobilinogen) in plasma and urine, and porphyrins in feces. Selected patients are entered in other porphyria research protocols at this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.

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