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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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| Publicado no: | Neurology |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2020
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| Assuntos: | |
| Acesso em linha: | 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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