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Acute intermittent porphyria in two patients on anticonvulsant therapy and with normal erythrocyte porphobilinogen deaminase activity.

✍ Scribed by AL Herrick; KE McColl; MR Moore; MJ Brodie; AR Adamson; A. Goldberg

Book ID: 117944863
Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 896 KB
Volume: 27
Category: Article
ISSN: 0306-5251
DOI: 10.1111/j.1365-2125.1989.tb05398.x

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A partial deficiency of Porphobilinogen deaminase (PBG-D) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and three previously reported were found in