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An update of clinical management of acute intermittent porphyria

Acute intermittent porphyria (AIP) is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme biosynthesis. It manifests with occasional neuropsychiatric crises associated with overproduction of porphyrin precursors, aminolevulinic acid and porphobilinogen. The clinical cr...

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Publicado en:Appl Clin Genet
Autores principales: Pischik, Elena, Kauppinen, Raili
Formato: Artigo
Lenguaje:Inglês
Publicado: Dove Medical Press 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4562648/
https://ncbi.nlm.nih.gov/pubmed/26366103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S48605
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