inosine-triphosphate and Metabolism--Inborn-Errors

inosine-triphosphate has been researched along with Metabolism--Inborn-Errors* in 1 studies

Other Studies

1 other study(ies) available for inosine-triphosphate and Metabolism--Inborn-Errors

Article	Year
A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. Journal of inherited metabolic disease, 2004, Volume: 27, Issue:2 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. Topics: Adult; Erythrocytes; Female; Humans; Inosine Triphosphatase; Inosine Triphosphate; Japan; Leukocytes; Metabolism, Inborn Errors; Pyrophosphatases	2004

Article

Year

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

Journal of inherited metabolic disease, 2004, Volume: 27, Issue:2

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.

Topics: Adult; Erythrocytes; Female; Humans; Inosine Triphosphatase; Inosine Triphosphate; Japan; Leukocytes; Metabolism, Inborn Errors; Pyrophosphatases

2004