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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Gene & Cell Therapy 2020
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Original Article
Online adgang: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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