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Menkes' kinky hair disease: I. comparison of classical and unusual clinical and biochemical features in two patients
Authors:Jacobus Willemse  Cornelis JA Van den Hamer  Hans W Prins  Paul L Jonker
Affiliation:1. Department of Child Neurology, University Hospital, Utrecht, The Netherlands;2. Interuniversity Reactor Institute, Delft, The Netherlands
Abstract:
Keywords:Menkes' kinky hair disease  X-chromo-some-linked copper malabsorption (X-cLCM)  fibroblasts  Cu-metabolism  inborn errors
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