Acute intermittent porphyria, givosiran, and homocysteine
Acute intermittent porphyria (AIP) is a rare genetic metabolic disease caused by a specific enzyme dysfunction in the hepatic heme biosynthesis pathway. Besides the obvious clinical relevance of a disease in which patients are at risk of acute life-threatening neurovisceral attacks, the study of thi...
| Autores: | , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2021 |
| País: | España |
| Institución: | Universidad de Navarra |
| Repositorio: | Dadun. Depósito Académico Digital de la Universidad de Navarra |
| Idioma: | inglés |
| OAI Identifier: | oai:dadun.unav.edu:10171/114733 |
| Acceso en línea: | https://hdl.handle.net/10171/114733 |
| Access Level: | acceso abierto |
| Palabra clave: | Acute intermittent porphyria Givosiran Homocysteine |
| Sumario: | Acute intermittent porphyria (AIP) is a rare genetic metabolic disease caused by a specific enzyme dysfunction in the hepatic heme biosynthesis pathway. Besides the obvious clinical relevance of a disease in which patients are at risk of acute life-threatening neurovisceral attacks, the study of this disorder is of particular interest because it can provide straightforward proof-of-concept for new molecular therapies and also reveal unexpected metabolic crosstalks. |
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