Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study

BACKGROUND: Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) leads to disabling acute neurovisceral...

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Detalles Bibliográficos
Autores principales: Wang, Bruce, Ventura, Paolo, Takase, Kei-ichiro, Thapar, Manish, Cassiman, David, Kubisch, Ilja, Liu, Shangbin, Sweetser, Marianne T., Balwani, Manisha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419398/
https://www.ncbi.nlm.nih.gov/pubmed/36028858
http://dx.doi.org/10.1186/s13023-022-02463-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419398/
https://www.ncbi.nlm.nih.gov/pubmed/36028858
http://dx.doi.org/10.1186/s13023-022-02463-x

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