Literature DB >> 630801

Family studies on the activity of uroporphyrinogen I synthase in diagnosis of acute intermittent porphyria.

E G Astrup.   

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Year:  1978        PMID： 630801     DOI： 10.1042/cs0540251

Source DB:  PubMed          Journal:  Clin Sci Mol Med        ISSN： 0301-0538


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  2 in total

1.  Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

Authors:  R J Desnick; L T Ostasiewicz; P A Tishler; P Mustajoki
Journal:  J Clin Invest       Date:  1985-08       Impact factor: 14.808

2.  Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.

Authors:  K E McColl; M R Moore; G G Thompson; A Goldberg
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318
  2 in total

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