糖原病VIII b型 (Phosphorylase Kinase Deficiency) の1症例

辻 祐一郎; 大庭 敏夫; 近岡 弘; 板橋 家頭夫; 瀧田 誠司; 奥山 和男

doi:10.14930/jsma1939.53.116

A CASE OF GLYCOGEN STORAGE DISEASE TYPE VIII b (PHOSPHORYLASE B KINASE DEFICIENCY)

Yuichirou TSUJI, Toshio OHBA, Hiroshi CHIKAOKA, Kazuo ITABASHI, Seiji TAKITA, Kazuo OKUYAMA

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Keywords: phosphorylase b kinase, Fernandes tolerance test, hepatomegaly

JOURNAL FREE ACCESS

1993 Volume 53 Issue 1 Pages 116-121

DOI https://doi.org/10.14930/jsma1939.53.116

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Abstract

A 2 year-old boy with hepatomegaly and increased hepatic enzymes was admitted to our hospital. Fernandes tolerance tests were performed, and activities of phosphorylase and phosphorylase b kinase were measured. The results indicated that he had glycogen storage disease type VIII b.

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