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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Ther
Auteurs principaux: Bustad, Helene J., Toska, Karen, Schmitt, Caroline, Vorland, Marta, Skjærven, Lars, Kallio, Juha P., Simonin, Sylvie, Letteron, Philippe, Underhaug, Jarl, Sandberg, Sverre, Martinez, Aurora
Format: Artigo
Langue:Inglês
Publié: American Society of Gene & Cell Therapy 2020
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001003/
https://ncbi.nlm.nih.gov/pubmed/31810863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymthe.2019.11.010
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