Screening for abnormal cholesterol biosynthesis in the smith-lemli-opitz syndrome: Rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 288-293

  Honda, Akira ^a,b   Batta, Ashok K ^a   Salen, Gerald ^a   Stephen Tint, G ^b   Chen, Thomas S ^b   Sheferl, Sarah ^b  

^a UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

7 dehydrocholesterol; Plasma; Screening; Skin fibroblast; Smith lemli opitz syndrome; Ultraviolet spectrometry

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FEMALE; HUMAN; MALE; PRIORITY JOURNAL; SCREENING TEST; SMITH LEMLI OPITZ SYNDROME; ULTRAVIOLET SPECTROSCOPY;

CELLS, CULTURED; CHOLESTEROL; CHROMATOGRAPHY, GAS; DEHYDROCHOLESTEROLS; FEMALE; FIBROBLASTS; HUMANS; MALE; SMITH-LEMLI-OPITZ SYNDROME; SPECTROPHOTOMETRY, ULTRAVIOLET;

EID: 0031057690     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970131)68:3<288::aid-ajmg8>3.0.co;2-i     Document Type: Article

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