High 64Cu uptake and retention values in two clinically atypical Menkes patients.
Open Access
- 1 September 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (9) , 615-618
- https://doi.org/10.1136/jmg.28.9.615
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.Keywords
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