The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Hypocupremic Infant Associated with Mental Retardation and Hepatic Cirrhosis: Probably a Copper Malabsorption Syndrome
Toshio YoshidaTasuke KonnoTsuneo Arakawa
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1969 Volume 98 Issue 3 Pages 229-239

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Abstract
The case of a 3-month-old girl was described who was characterized by a clinical picture consisting of mental retardation, abnormalities in PEG and EEG, and portal cirrhosis of the liver, and by biochemical findings of hypocupremia not associated with hypoproteinemia and hypoferremia. A defective absorption of copper from the gastrointestinal tract was suggested to be of primary importance in the etiology of this syndrome.
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© Tohoku University Medical Press
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