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Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Porphyrias are a group of inherited metabolic diseases that include eight types, each of which is caused by a mutation that affects an enzyme of the heme biosynthetic pathway. When an enzyme defect has physiological significance, it leads to overproduction of pathway precursors prior to the defectiv...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Ma, Yuelin, Teng, Qing, Zhang, Yiran, Zhang, Songyun
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586881/
https://ncbi.nlm.nih.gov/pubmed/33139977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03054
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