Congenital absence of norepinephrine due to CYB561 mutations
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DOI: 10.1212/wnl.0000000000008734
Abstract: 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… read more here.
Keywords: cyb561; norepinephrine due; cyb561 mutations; congenital absence ... See more keywords