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 journalArticlepeer-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 languageEnglish
Pages (from-to)277-278
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number2
DOIs
Publication statusPublished - 2004

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells'. Together they form a unique fingerprint.

Cite this