The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Electroencephalographic Study of an Infant with Phosphoribosylpyrophosphate Synthetase Deficiency
KAZUIE IINUMAYOSHIRO WADAAKIRA ONUMAMUNEYUKI TANABU
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1975 年 116 巻 1 号 p. 53-55

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In a hypouricemic and mentally retarded infant due to a defect of 5-phosphoribosylpyrophosphate synthetase, electroencephalograms were recorded at the age of 4, 7, 10 and 11 months. Hypsarrhythmia was first observed at the age of 10 months, and markedly improved after ACTH therapy with concomitant increase in the enzyme activity of erythrocytes.
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© Tohoku University Medical Press
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