Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism.

Subjects

Subjects :

5-Aminolevulinate Synthetase metabolism
Acute Disease
Adolescent
Adult
Erythrocytes enzymology
Feces analysis
Female
Humans
Levulinic Acids metabolism
Lyases blood
Male
Pedigree
Porphobilinogen biosynthesis
Porphyrias diagnosis
Porphyrias enzymology
Porphyrias metabolism
Porphyrins analysis
Porphyrins biosynthesis
Porphyrins urine
Propionates
Porphyrias genetics
Pyrroles metabolism

Details

Language :

English

ISSN :

0028-4793

Volume :

286

Issue :

24

Database :

MEDLINE

Journal :

The New England journal of medicine

Publication Type :

Academic Journal

Accession number :

5024458

Full Text :

https://doi.org/10.1056/NEJM197206152862401