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

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	277-278
Number of pages	2
Journal	Journal of Inherited Metabolic Disease
Volume	27
Issue number	2
DOIs	https://doi.org/10.1023/B:BOLI.0000028838.24871.8e
Publication status	Published - 2004
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1023/B:BOLI.0000028838.24871.8e

Cite this

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

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.",

author = "S. Sumi and A. Ueta and T. Maeda and T. Ito and Y. Ohkubo and H. Togari",

year = "2004",

doi = "10.1023/B:BOLI.0000028838.24871.8e",

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T1 - A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells

AU - Sumi, S.

AU - Ueta, A.

AU - Maeda, T.

AU - Ito, T.

AU - Ohkubo, Y.

AU - Togari, H.

PY - 2004

Y1 - 2004

N2 - 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.

AB - 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.

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DO - 10.1023/B:BOLI.0000028838.24871.8e

M3 - Article

C2 - 15243983

AN - SCOPUS:2942564348

SN - 0141-8955

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JF - Journal of Inherited Metabolic Disease

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ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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