A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

Journal of Lipid Research

Volumn 52, Issue 7, 2011, Pages 1435-1445

  Jiang, Xuntian ^a   Sidhu, Rohini ^a   Porter, Forbes D ^b   Yanjanin, Nicole M ^b   Speak, Anneliese O ^c   Te Vruchte, Danielle Taylor ^c   Platt, Frances M ^c   Fujiwara, Hideji ^a   Scherrer, David E ^a   Zhang, Jessie ^a   Dietzen, Dennis J ^a   Schaffer, Jean E ^a   Ory, Daniel S ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Cholesterol; Diagnostic tools; Liquid chromatography tandem mass spectrometry; Neurodegeneration; Niemann Pick disease; Oxysterols

Indexed keywords

7 OXOCHOLESTEROL; CHOLESTANOL; DIMETHYLGLYCINE;

ADOLESCENT; ADULT; ARTICLE; CALIBRATION; CHILD; CONTROLLED STUDY; DERIVATIZATION; DIAGNOSTIC ACCURACY; HUMAN; INFANT; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; NIEMANN PICK DISEASE; NON INVASIVE PROCEDURE; OXIDATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; CALIBRATION; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTANOLS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KETOCHOLESTEROLS; MALE; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE C; SARCOSINE; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TIME FACTORS; YOUNG ADULT;

EID: 79959232858     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.D015735     Document Type: Article

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