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 |
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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 | |
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)