Neonatal Diagnosis and Treatment of Menkes Disease | Zendy

Stephen G. Kaler | Zendy; Courtney Holmes | Zendy; David S. Goldstein | Zendy; Jingrong Tang | Zendy; Sarah C. Godwin | Zendy; Anthony Donsante | Zendy; Clarissa J. Liew | Zendy; Susumu Satō | Zendy; Nicholas J. Patronas | Zendy

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Neonatal Diagnosis and Treatment of Menkes Disease

Author(s) -

Stephen G. Kaler,

Courtney Holmes,

David S. Goldstein,

Jingrong Tang,

Sarah C. Godwin,

Anthony Donsante,

Clarissa J. Liew,

Susumu Satō,

Nicholas J. Patronas

Publication year - 2008

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa070613

Subject(s) - menkes disease , medicine , neurochemical , atp7a , disease , pathology , copper metabolism , copper , gene , genetics , biology , transporter , chemistry , organic chemistry

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 the diagnostic usefulness of plasma neurochemical levels, assessed the clinical effect of early detection, and investigated the molecular bases for treatment outcomes.

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