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Volumn 115, Issue 1-2, 2002, Pages 1-15
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A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome
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Author keywords
7 Dehydrocholesterol; Diagnostic testing; Guthrie card; Liebermann Burchard reagent; Neonatal screening; NMR; SLOS
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Indexed keywords
7 DEHYDROCHOLESTEROL;
7 DEHYDROCHOLESTEROL REDUCTASE;
ANTIOXIDANT;
OXIDOREDUCTASE;
REAGENT;
UNCLASSIFIED DRUG;
ARTICLE;
BLOOD SAMPLING;
COLORIMETRY;
CONTROLLED STUDY;
DEVICE;
DIAGNOSTIC PROCEDURE;
GENETIC DISORDER;
HUMAN;
HYPOCHOLESTEROLEMIA;
LOW TEMPERATURE;
MUTATION;
PRIORITY JOURNAL;
SMITH LEMLI OPITZ SYNDROME;
CASE-CONTROL STUDIES;
COLORIMETRY;
DEHYDROCHOLESTEROLS;
HUMANS;
INDICATORS AND REAGENTS;
KINETICS;
NUCLEAR MAGNETIC RESONANCE, BIOMOLECULAR;
REPRODUCIBILITY OF RESULTS;
SENSITIVITY AND SPECIFICITY;
SMITH-LEMLI-OPITZ SYNDROME;
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EID: 0036275403
PISSN: 00093084
EISSN: None
Source Type: Journal
DOI: 10.1016/S0009-3084(01)00205-5 Document Type: Article |
Times cited : (8)
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References (46)
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