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Hyperadeninuria in a Patient with Congenital Deficiency of Adenine Phosphoribosyltransferase

 

作者: Tadao NORO,   Akira KAMIKAWA,   Tomoji SAMORI,  

 

期刊: Congenital Anomalies  (WILEY Available online 1985)
卷期: Volume 25, issue 1  

页码: 57-64

 

ISSN:0914-3505

 

年代: 1985

 

DOI:10.1111/j.1741-4520.1985.tb00634.x

 

出版商: Blackwell Publishing Ltd

 

关键词: A‐PRTase deficiency;2,8‐dihydroxyadeninuria;hyperadeninuria;adenin‐body urine disease

 

数据来源: WILEY

 

摘要:

AbstractThe authors have previously reported on the possibility of using the detection of crystalluria of 2, 8‐dihydroxyadenine as a screening test for the early discovery of congenital adenine phosphoribosytransferase deficiency.Since the amount of adenine in urine was determined by high performance liquid chromatography and hyperadeninuria in a girl patient with this disease was definitely recognized, it is concluded that the detection of crystalluria of 2,8‐dihydroxyadenine as a primary screening test and the demonstration of hyperadeninuria as a secondary screening are helpful in an early detection of this disease.The authors would like to propose this disease be designated a “Adenine‐body Urine Disease,” since adenine bodies such as adenine and 2,8‐dihydroxyadenine are excreted into the urine in la

 

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