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HEREDITARY OROTIC ACIDURIA

 

作者: G. B. SOUTTER,   J. S. YU,   A. LOVRIC,   T. STAPLETON,  

 

期刊: Journal of Paediatrics and Child Health  （WILEY Available online 1970）
卷期: Volume 6, issue 1  

页码: 47-52

 

ISSN:1034-4810

 

年代: 1970

 

DOI:10.1111/j.1440-1754.1970.tb02858.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

SYNOPSISA case of orotic aciduria is reported and the clinical features reviewed. Replacement therapy with uridine achieved a striking clinical and haematological remission. Early diagnosis is important in preventing the occurrence of mental retardation.

 

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