Document Detail


Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.
MedLine Citation:
PMID:  2111546     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one.
Authors:
H Zhao; O P Van Diggelen; R Thoomes; J Huijmans; E Young; T Mazurczak; W J Kleijer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  10     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1990 Feb 
Date Detail:
Created Date:  1990-06-26     Completed Date:  1990-06-26     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  85-91     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Amniotic Fluid / chemistry
Brain / metabolism
Cells, Cultured / metabolism
Chondroitinsulfatases / metabolism
Chorionic Villi Sampling
Clinical Enzyme Tests / methods*
Female
Fetus / metabolism
Fluorescent Dyes / diagnostic use
Fluorometry
Humans
Liver / metabolism
Mucopolysaccharidosis IV / diagnosis*
Muscles / metabolism
Pregnancy
Prenatal Diagnosis / methods*
Thiogalactosides / diagnostic use
Umbelliferones / diagnostic use
Chemical
Reg. No./Substance:
0/Fluorescent Dyes; 0/Thiogalactosides; 0/Umbelliferones; 126938-14-5/4-methylumbelliferyl-6-thiogalactoside; EC 3.1.6.-/Chondroitinsulfatases

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