| 標題（洋） | | Japanese type adenine phosphoribosyltransferase(APRT)deficiencyAltered kinetic properties of a mutant adenine phosphoribosyltransferaseCommon charactereristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies |