Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 300-304

  Ziramerman, Paid A ^a,b   Hercules, David M ^b   Naylor, Edwin W ^c  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b Neo Gen Screening Inc   (United States)

^c VANDERBILT UNIVERSITY   (United States)

Author keywords

7 dehydrocholesterol; blood; cholesterol; Smith Lemli Opitz syndrome; time of flight secondary ion mass spectrometry

Indexed keywords

ADULT; ARTICLE; BLOOD ANALYSIS; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; HUMAN; MASS SPECTROMETRY; NEWBORN; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ADULT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DEHYDROCHOLESTEROLS; EVALUATION STUDIES; FILTRATION; HUMANS; INFANT; INFANT, NEWBORN; MASS SCREENING; SMITH-LEMLI-OPITZ SYNDROME; SPECTROMETRY, MASS, SECONDARY ION;

EID: 0031049767     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<300::AID-AJMG10>3.0.CO;2-X     Document Type: Article

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