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References in periodicals archive ?
Menkes disease: what a multidisciplinary approach can do.
Neural effects in copper deficient Menkes disease: ATP7A-a distinctive marker.
Keywords: Menkes disease, Infantile spasms, Hypsarrythmia.
The amount guarantees that Vinnie, who suffers from Menkes Disease, will get the sensory lighting he so desperately requires.
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Hall et al., "Isolation of partial candidate gene for Menkes disease by positional cloning, " Nature Genetics, vol.
We report a case of Menkes disease that illustrates the devastating effect of wrongfully labelling a case as one of child abuse.
Non-ketotic hyperglycemia, propionic aciduria, methylmalonic acidemia, D-glyceric acidemia, sulfite and xanthine oxidase deficiency, Menkes disease and Zellweger syndrome are the main metabolic disorders which are known to cause this disease.
Gene therapy plus an injection of copper dramatically improved survival in mice with a condition that mimics the often fatal childhood disorder Menkes disease, according to a study by researchers at the National Institutes of Health.
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
The same group and others have used the method to characterize the neurochemical profiles of dopamine-|3hydroxylase deficiency, DOPA decarboxylase deficiency, tyrosine hydroxylase deficiency, Menkes disease, and X-linked deficiencies of monoamine oxidase.
Menkes disease is an X-linked recessive disease related to insufficiency of copper absorption from the intestine (1).