The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
A Sex-linked Disorder with Mental and Physical Retardation Characterized by Cerebrocortical Atrophy and Increase of Glutamic Acid in the Cerebrospinal Fluid
Toshio YoshidaKeiya TadaTakashi MizunoYoshiro WadaJinzo AkabaneJiro OgasawaraAkibumi MinagawaToshio MorikawaToshihiro Okamura
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1964 Volume 83 Issue 3 Pages 261-269

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Abstract

A case of mental and physical retardation inherited as a sex-linked recessive trait is presented. Laboratory findings revealed an elevated level of glutamic acid, diminished level of glutamine in the cerebrospinal fluid, mild generalized aminoaciduria and galactosuria. Pneumoencephalogram indicated a remarkable atrophy of the cerebral cortex.

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© Tohoku University Medical Press
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