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Un Cas de Syndrome de Lesch-Nyhan

 

作者: HeynenG.,   AndrienJ.M.,   DodinvalP.,   FranchimontP.,  

 

期刊: Acta Clinica Belgica  （Taylor Available online 1971）
卷期: Volume 26, issue 6  

页码: 357-365

 

ISSN:1784-3286

 

年代: 1971

 

DOI:10.1080/17843286.1971.11716804

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

SummaryLesch Nyhan Syndrome is a hereditary disorder transmitted by chromosome X.Mental arrieration, choreathetosis, spasticity, gout and self-mutilating behaviour are the main clinical features. We describe clinical, biological, genetic and biochemical studies where J.E. Seegmiller has provided evidence for hypoxanthine-guanine- phos-phoribosyl transferase deficiency.

 

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