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
27
2
DOI
出版ステータスPublished - 2004
外部発表はい

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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