Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several cell types from male infants with Menkes disease accumulate increased amounts of copper. Ultrastructural localization of copper by a histologic staining technique and X-ray microanalysis is established the subcellular distribution of the metal. In Menkes patients, copper was heavily concentrated on the brush border of intestinal epithelium as well as on the plasma membrane of cultured fibroblasts. The transport defect seems to be caused by a decreased transport of copper across plasma membrane, which mainly affects the influx mechanism.
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PMID:Menkes syndrome: subcellular distribution of copper determined by an ultrastructural histochemical technique. 723 83