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Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease

BACKGROUND: Menkes disease is an X-linked recessive neurodevelopmental disorder resulting from mutation in a copper-transporting ATPase gene. Menkes disease can be detected by relatively high concentrations of dopamine (DA) and its metabolites compared to norepinephrine (NE) and its metabolites, pre...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Goldstein, David S., Holmes, Courtney S., Kaler, Stephen G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2009
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3477515/
https://ncbi.nlm.nih.gov/pubmed/19234788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11064-009-9933-8
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