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

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

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)277-278
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number2
DOIs
Publication statusPublished - 23-06-2004
Externally publishedYes

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Leukocytes
Inosine Triphosphate
Erythrocytes
inosine triphosphatase

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. / Sumi, S.; Ueta, A.; Maeda, T.; Ito, Tetsuya; Ohkubo, Y.; Togari, H.

In: Journal of Inherited Metabolic Disease, Vol. 27, No. 2, 23.06.2004, p. 277-278.

Research output: Contribution to journalArticle

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AU - Sumi, S.

AU - Ueta, A.

AU - Maeda, T.

AU - Ito, Tetsuya

AU - Ohkubo, Y.

AU - Togari, H.

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