Congenital absence of norepinephrine due to CYB561 mutations

OBJECTIVE: Cytochrome b561 (CYB561) generates ascorbic acid, a cofactor in the enzymatic conversion of dopamine to norepinephrine by dopamine β-hydroxylase. We propose that the clinical relevance of this pathway can be revealed by characterizing the autonomic and biochemical characteristics of patie...

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Bibliografiska uppgifter
I publikationen:Neurology
Huvudupphovsmän: Shibao, Cyndya A., Garland, Emily M., Black, Bonnie K., Mathias, Christopher J., Grant, Maria B., Root, Allen W., Robertson, David, Biaggioni, Italo
Materialtyp: Artigo
Språk:Inglês
Publicerad: Lippincott Williams & Wilkins 2020
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6988982/
https://ncbi.nlm.nih.gov/pubmed/31822578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000008734
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