Linked Life Data

10719317

Source:http://linkedlifedata.com/resource/pubmed/id/10719317

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-5-11
pubmed:abstractText
Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases. The results indicated an affected fetus in one pregnancy which represents the first case of first-trimester diagnosis of this disorder; heterozygosity was demonstrated in two cases. Following amniocentesis, two affected fetuses and one heterozygote were diagnosed. The results of the present prospective prenatal analyses confirm our previous retrospective studies and demonstrate the reliability and convenience of the 4-methylumbelliferyl substrate.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0197-3851
pubmed:author
pubmed:copyrightInfo
Copyright 2000 John Wiley & Sons, Ltd.
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
183-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
First-trimester diagnosis of Morquio disease type A.
pubmed:affiliation
Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands. kleijer@kgen.fgg.eur.nl
pubmed:publicationType
Journal Article