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CHARACTERIZATION OF ENZYME DEFECTS IN PORPHYRIAS

CHARACTERIZATION OF ENZYME DEFECTS IN PORPHYRIAS
卟啉症酶缺陷的表征
批准号：
6413647
负责人：
KARL E ANDERSON
金额：
$27.93万
依托单位：
UNIVERSITY OF TEXAS MED BR GALVESTON
依托单位国家：
美国
项目类别：
财政年份：
2000
资助国家：
美国
项目状态：
已结题
起止时间：
2000-12-01 至 2001-11-30
来源：
https://reporter.nih.gov/project-details/6413647
关键词：
blood chemistry clinical research enzyme deficiency erythrocytes family genetics feces analysis human subject porphobilinogen porphyrias porphyrin metabolism porphyrins urinalysis

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中文摘要
翻译
目的是表征已知或疑似卟啉症患者及其家庭的酶缺陷。方法包括测定红细胞中卟啉原脱氨酶和卟啉，测定血浆和尿液中的卟啉和卟啉前体（-氨基乙酰丙酸和卟啉原），测定粪便中的卟啉。选定的患者进入该机构和其他机构的其他卟啉症研究方案，包括DNA分析，以确定血红素生物合成途径酶基因的特定突变。
英文摘要
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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会议论文
CHARACTERIZATION OF ENZYME DEFECTS IN PORPHYRIAS
STUDIES IN PORPHYRIA III, HEME, AND TIN MESOPORPHYRIN IN ACUTE PORPHYRIAS
HEME ARGINATE IN ACUTE PORPHYRIA
STUDIES IN PORPHYRIA CUTANEA TARDA
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