Document Detail


Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk.
MedLine Citation:
PMID:  6413967     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an alpha-L-iduronidase deficiency and an increased level of 35S-sulphate incorporation. The diagnosis were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for alpha-L-iduronidase, using phenyl alpha-L-iduronide and more recently 4-methyl-umbelliferyl alpha-L-iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. 35S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.
Authors:
W J Kleijer; E J Thompson; M F Niermeijer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  3     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1983 Jul 
Date Detail:
Created Date:  1983-11-23     Completed Date:  1983-11-23     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  179-86     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amniocentesis*
Amniotic Fluid / cytology,  enzymology
Cells, Cultured
Clinical Enzyme Tests*
Female
Fetus / metabolism
Fibroblasts / metabolism
Humans
Iduronidase / deficiency
Liver / enzymology
Mucopolysaccharidosis I / diagnosis*
Pregnancy
Prenatal Diagnosis*
Risk
Chemical
Reg. No./Substance:
EC 3.2.1.76/Iduronidase

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


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