A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000642:Ammonia-Lyases / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D007700:Kinetics; D008297:Male; D008722:Methods; D008875:Middle Aged; D010088:Oxidoreductases / Q000097:blood; D010375:Pedigree; D011162:Porphobilinogen; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics; D012737:Sex Factors; D013050:Spectrometry, Fluorescence; D013739:Testosterone / Q000378:metabolism
D013739:Testosterone; D011162:Porphobilinogen; D010088:Oxidoreductases; D000642:Ammonia-Lyases