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Article

Neonatal diagnosis and treatment of Menkes disease.

The New England journal of medicine - 7 Feb 2008

Kaler Stephen G, Holmes Courtney S, Goldstein David S, Tang Jingrong, Godwin Sarah C, Donsante Anthony, Liew Clarissa J, Sato Susumu, Patronas Nicholas

Abstract excerpt

BACKGROUND: Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A. Early treatment with copper injections may prevent death and illness, but presymptomatic detection is hindered by the inadequate sensitivity and specificity of diagnostic tests. Exploiting the deficiency of a copper enzyme, dopamine-beta-hydroxylase, we prospectively evaluated...

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Identifiers

PMID: 18256395
DOI: 10.1056/NEJMoa070613
PMCID: PMC3477514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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