High 64Cu uptake and retention values in two clinically atypical Menkes patients.

Tønnesen, T; Garrett, C; Gerdes, A M · J Med Genet · 1991

case_report · Level V

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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.

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