Pilot Study of Mitochondrial Bioenergetics in Subjects with Acute Porphyrias

1 BACKGROUND AND AIMS: The acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation of 5-aminolevulinic acid [ALA] synthase-1, whi...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab
Hauptverfasser: Dixon, Natalia, Li, Ting, Marion, Brandon, Faust, Denise, Dozier, Stephen, Molina, Anthony, Rudnick, Sean, Bonkovsky, Herbert L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2019
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6864263/
https://ncbi.nlm.nih.gov/pubmed/31153822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.05.010
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