A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria

Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors triggers life-threatening neurovisceral attacks and at long-term, entails an incr...

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Detalles Bibliográficos
Autores principales: Bustad, Helene J., Toska, Karen, Schmitt, Caroline, Vorland, Marta, Skjærven, Lars, Kallio, Juha P., Simonin, Sylvie, Letteron, Philippe, Underhaug, Jarl, Sandberg, Sverre, Martinez, Aurora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001003/
https://www.ncbi.nlm.nih.gov/pubmed/31810863
http://dx.doi.org/10.1016/j.ymthe.2019.11.010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001003/
https://www.ncbi.nlm.nih.gov/pubmed/31810863
http://dx.doi.org/10.1016/j.ymthe.2019.11.010

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