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Acute Hepatic Porphyrias: Current Diagnosis & Management
Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme biosynthetic pathway. The accumulation of pathway intermediates that occur most notably when these diseases are active is the basis for screening and establishing a biochemical diagnosis of these rare disorders. Me...
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| Publicado no: | Mol Genet Metab |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6911835/ https://ncbi.nlm.nih.gov/pubmed/31311713 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.07.002 |
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