Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the e...

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Bibliographic Details
Main Authors: Lamon, J M, Frykholm, B C, Tschudy, D P
Format: Artigo
Language:Inglês
Published: 1979
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012738/
https://ncbi.nlm.nih.gov/pubmed/458830
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