Abstract
We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Cells, Cultured
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Ceruloplasmin / analysis
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Copper / blood
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Copper Radioisotopes*
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Female
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Fibroblasts / metabolism
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Genes, Recessive
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Genetic Carrier Screening
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Hair / pathology
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Humans
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Infant
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Male
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Menkes Kinky Hair Syndrome / diagnosis*
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Menkes Kinky Hair Syndrome / genetics
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Menkes Kinky Hair Syndrome / metabolism
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Menkes Kinky Hair Syndrome / pathology
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Pedigree
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Phenotype
Substances
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Copper Radioisotopes
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Copper
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Ceruloplasmin