Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.

BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disorder in the heme biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. Clinically, AIP is characterized as acute neurovisceral attacks that are often precipitated by exogenous factors such as drugs,...

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Main Authors: Schuurmans, M. M., Schneider-Yin, X., Rüfenacht, U. B., Schnyder, C., Minder, C. E., Puy, H., Deybach, J. C., Minder, E. I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2001
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950064/
https://ncbi.nlm.nih.gov/pubmed/11591889
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