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Catecholamine Metabolites Affected by the Copper- Dependent Enzyme Dopamine- Beta-Hydroxylase Provide Sensitive Biomarkers for Early Diagnosis of Menkes Disease and Viral-Mediated ATP7A Gene Therapy
Menkes disease is a lethal X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, a copper-transporting ATPase with diverse and important biological functions. Partial deficiency of dopamine-beta-hydroxylase is a biochemical hallmark of this illness due to the normal role of...
Gardado en:
| Publicado en: | Adv Pharmacol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2013
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6421562/ https://ncbi.nlm.nih.gov/pubmed/24054147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/B978-0-12-411512-5.00011-7 |
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