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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2006-9-4
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pubmed:abstractText |
Smith-Lemli-Opitz syndrome (SLOS) is a rare hereditary disorder of cholesterol metabolism. We examine the feasibility of identifying SLOS as a part of a routine prenatal screening and evaluate diagnostic testing in maternal urine (or serum), in addition to amniotic fluid.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0197-3851
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pubmed:author |
pubmed-author:CraigWendy YWY,
pubmed-author:HaddowJames EJE,
pubmed-author:IronsMira BMB,
pubmed-author:KelleyRichard IRI,
pubmed-author:KlozaEdward MEM,
pubmed-author:KratzLisa ELE,
pubmed-author:MacRaeAndrew RAR,
pubmed-author:MarcosJosepJ,
pubmed-author:NowaczykMalgorzata JMJ,
pubmed-author:PalomakiGlenn EGE,
pubmed-author:RobersonMarieM,
pubmed-author:ShackletonCedric H LCH,
pubmed-author:Stephen TintGG
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pubmed:issnType |
Print
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pubmed:volume |
26
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
842-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16832833-Abnormalities, Multiple,
pubmed-meshheading:16832833-Adult,
pubmed-meshheading:16832833-Algorithms,
pubmed-meshheading:16832833-Amniocentesis,
pubmed-meshheading:16832833-Biological Markers,
pubmed-meshheading:16832833-Down Syndrome,
pubmed-meshheading:16832833-Female,
pubmed-meshheading:16832833-Genetic Testing,
pubmed-meshheading:16832833-Humans,
pubmed-meshheading:16832833-Pregnancy,
pubmed-meshheading:16832833-Pregnancy Outcome,
pubmed-meshheading:16832833-Pregnancy Trimester, Second,
pubmed-meshheading:16832833-Prevalence,
pubmed-meshheading:16832833-Smith-Lemli-Opitz Syndrome,
pubmed-meshheading:16832833-Steroids,
pubmed-meshheading:16832833-United States
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pubmed:year |
2006
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pubmed:articleTitle |
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
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pubmed:affiliation |
Foundation for Blood Research, Scarborough, ME, USA.
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pubmed:publicationType |
Journal Article,
Multicenter Study,
Research Support, N.I.H., Extramural
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