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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Detalhes bibliográficos
Publicado no:Mol Ther
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: American Society of Gene & Cell Therapy 2020
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Original Article
Acesso em linha: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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