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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:
6305269
负责人:
KARL E ANDERSON
金额:
$3.42万
依托单位国家:
美国
项目类别:
财政年份:
1999
资助国家:
美国
项目状态:
已结题
起止时间:
1999-12-01 至 2000-11-30

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中文摘要
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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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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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