Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives

Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threatening acute attacks, characterized by severe abdominal pain, along with other signs and sympt...

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Detalles Bibliográficos
Autores principales: Marcacci, Matteo, Ricci, Andrea, Cuoghi, Chiara, Marchini, Stefano, Pietrangelo, Antonello, Ventura, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991793/
https://www.ncbi.nlm.nih.gov/pubmed/35392955
http://dx.doi.org/10.1186/s13023-022-02314-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991793/
https://www.ncbi.nlm.nih.gov/pubmed/35392955
http://dx.doi.org/10.1186/s13023-022-02314-9

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