首页   按字顺浏览 期刊浏览 卷期浏览 Studies on Cerebral Lipidosis Prenatal Diagnosis of Tay‐Sachs Disease*
Studies on Cerebral Lipidosis Prenatal Diagnosis of Tay‐Sachs Disease*

 

作者: Hyakuji Yabuuchi,   Kiyoomi Sumi,   Keiichi Kurachi,   Jun Hanai,  

 

期刊: Pediatrics International  （WILEY Available online 1971）
卷期: Volume 13, issue 2  

页码: 13-16

 

ISSN:1328-8067

 

年代: 1971

 

DOI:10.1111/j.1442-200X.1971.tb02367.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

SummaryIn the attempt to diagnose TSD, amniotic fluid was obtained by amniocentesis in a mother whose first child was TSD. Amniotic fluid and uncultured amniotic cells showed absence of hexosaminidase A. The fetus was diagnosed as TSD and the pregnancy was terminated through artificial abortion. Hexosaminidase A in the fetal brain and liver was deficient and an increase of ganglioside Gm2was observed in the brain of the affected fetus.

 

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