Loading...
Header Logo
Keywords
Last Name
Institution

Menkes Kinky Hair Syndrome

"Menkes Kinky Hair Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)


expand / collapse publications
This graph shows the total number of publications written about "Menkes Kinky Hair Syndrome" by people in this website by year, and whether "Menkes Kinky Hair Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
People Expand Description
_
Similar Concepts expand description
_
Top Journals expand description