A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells

S. Sumi; A. Ueta; T. Maeda; T. Ito; Y. Ohkubo; H. Togari

doi:10.1023/B:BOLI.0000028838.24871.8e

A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells

S. Sumi, A. Ueta, T. Maeda, T. Ito, Y. Ohkubo, H. Togari

研究成果: Article › 査読

11 被引用数 (Scopus)

抄録

Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is characterized by abnormal accumulation of inosine triphosphate. We describe the first Japanese case with ITPase deficiency and demonstrate that the deficiency of ITPase activity is not only found in erythrocytes but also in white blood cells.

本文言語	English
ページ（範囲）	277-278
ページ数	2
ジャーナル	Journal of Inherited Metabolic Disease
巻	27
号	2
DOI	https://doi.org/10.1023/B:BOLI.0000028838.24871.8e
出版ステータス	Published - 2004
外部発表	はい

All Science Journal Classification (ASJC) codes

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1023/B:BOLI.0000028838.24871.8e

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引用スタイル

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AU - Ito, T.

AU - Ohkubo, Y.

AU - Togari, H.

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