Cholestane-3β,5α,6β-triol: High levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Journal of Lipid Research

Volumn 56, Issue 10, 2015, Pages 1926-1935

  Pajares, Sonia ^a   Arias, Angela ^a   García Villoria, Judit ^a   MacÍas Vidal, Judit ^a   Ros, Emilio ^a   De Las Heras, Javier ^b   Girós, Marisa ^a   Coll, Maria J ^a   Ribes, Antonia ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL DE CRUCES   (Spain)

Author keywords

3 ,7 ,12 trihydroxycoprostane; 7 ketocholesterol; Highperformance liquid chromatography electrospray ionization tandem mass spectrometry; Oxysterols

Indexed keywords

7 OXOCHOLESTEROL; CHOLESTANE 3BETA,5ALPHA,6BETA TRIOL; CHOLESTANE DERIVATIVE; CHOLESTEROL; UNCLASSIFIED DRUG; 7-KETOCHOLESTEROL; BIOLOGICAL MARKER; CHOLESTANE-3,5,6-TRIOL; CHOLESTANOL; CHOLESTEROL DERIVATIVE;

ACCURACY; ADOLESCENT; ADULT; AREA UNDER THE CURVE; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ELECTROSPRAY MASS SPECTROMETRY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FAMILIAL HYPERCHOLESTEROLEMIA; GALACTOSEMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; LIVER DISEASE; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; PEROXISOMAL BIOGENESIS DISORDER; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; SMITH LEMLI OPITZ SYNDROME; WOLMAN DISEASE; BLOOD; CASE CONTROL STUDY; FEMALE; MALE; MIDDLE AGED; NEWBORN; PRESCHOOL CHILD; PROCEDURES; XANTHOMATOSIS, CEREBROTENDINOUS;

ADOLESCENT; ADULT; BIOMARKERS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTANOLS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KETOCHOLESTEROLS; MALE; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE C; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; WOLMAN DISEASE; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84946568963     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M060343     Document Type: Article

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