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Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP
The porphyrias are a family of metabolic disorders caused by defects in the activity of one of the enzymes in the heme biosynthetic pathway. Acute intermittent porphyria (AIP), caused by autosomal dominant mutations in the gene encoding hydroxymethylbilane synthase, can lead to hepatocyte overaccumu...
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| Publicado no: | Hematology Am Soc Hematol Educ Program |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Hematology
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7727547/ https://ncbi.nlm.nih.gov/pubmed/33275677 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/hematology.2020000124 |
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