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

Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 277-278

  Sumi, S ^a   Ueta, A ^a   Maeda, T ^a   Ito, T ^a   Ohkubo, Y ^a   Togari, H ^a  

^a NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

INORGANIC PYROPHOSPHATASE; INOSINE TRIPHOSPHATE;

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CITRULLINEMIA; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFECT; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPAN; LEUKOCYTE; LIVER TRANSPLANTATION;

ADULT; ERYTHROCYTES; FEMALE; HUMANS; INOSINE TRIPHOSPHATE; JAPAN; LEUKOCYTES; METABOLISM, INBORN ERRORS; PYROPHOSPHATASES;

EID: 2942564348     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000028838.24871.8e     Document Type: Article

References (3)

1. Lin S, McLennan AG, Ying K, et al (2001) Cloning, expression, and characterization of human inosine triphosphate pyrophosphatase encoded by ITPA gene. J Biol Chem 276: 18695-18701.
2. Marinaki AM, Ansari A, Duley JA, et al (2004) Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). Pharmacogenetics 14: 181-188.
3. Sumi S, Marinaki AM, Arenas M, et al (2002) Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet 111: 360-367.