Document Detail

Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
MedLine Citation:
PMID:  6226459     Owner:  NLM     Status:  MEDLINE    
Two consecutive pregnancies at risk for Tay-Sachs disease with heat-labile beta-hexosaminidase B were monitored. Differential isozyme detection of beta-hexosaminidase in cell free amniotic fluid by DEAE cellulose column chromatography and cellulose acetate paper electrophoresis showed an affected fetus in the first pregnancy and an unaffected in the second. These results were confirmed in the aborted fetus and in a newborn baby, respectively.
T Momoi; K Kikuchi; Y Shigematsu; M Sudo; K Tanioka
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  133     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  1983 Oct 
Date Detail:
Created Date:  1983-12-20     Completed Date:  1983-12-20     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  331-4     Citation Subset:  IM    
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MeSH Terms
Amniotic Fluid / enzymology*
Clinical Enzyme Tests*
Drug Stability
Hexosaminidases / analysis*
Hot Temperature
Infant, Newborn
Isoenzymes / analysis*
Pregnancy Complications / enzymology
Pregnancy Trimester, Second
Prenatal Diagnosis
Tay-Sachs Disease / diagnosis*
Reg. No./Substance:
0/Isoenzymes; EC 3.2.1.-/Hexosaminidases; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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