Determination of serum cholestane-3β,5α,6β-triol by gas chromatography–mass spectrometry for identification of Niemann-Pick type C (NPC) disease

Journal of Steroid Biochemistry and Molecular Biology

Volumn 169, Issue , 2017, Pages 54-60

  Kannenberg, Frank ^a   Nofer, Jerzy Roch ^a   Schulte, Erhard ^a   Reunert, Janine ^a   Marquardt, Thorsten ^a   Fobker, Manfred ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Cholestane 3 ,5 ,6 triol; Gas Chromatography Mass Spectrometry (GC MS); Niemann Pick type C disease; Oxysterols

Indexed keywords

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

CEREBROTENDINOUS XANTHOMATOSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA SEQUENCE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; HUMAN; HUNTINGTON CHOREA; ION MONITORING; MAJOR CLINICAL STUDY; MASS FRAGMENTOGRAPHY; MEASUREMENT PRECISION; NIEMANN PICK DISEASE; QUALITY CONTROL; REVIEW; SANGER SEQUENCING; SITOSTEROLEMIA; SMITH LEMLI OPITZ SYNDROME; AREA UNDER THE CURVE; BLOOD; CALIBRATION; DOSE RESPONSE; LIMIT OF DETECTION; NIEMANN-PICK DISEASE, TYPE C; RECEIVER OPERATING CHARACTERISTIC; REPRODUCIBILITY; STATISTICAL MODEL;

AREA UNDER CURVE; BIOMARKERS; CALIBRATION; CHOLESTANOLS; DOSE-RESPONSE RELATIONSHIP, DRUG; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; LIMIT OF DETECTION; LINEAR MODELS; NIEMANN-PICK DISEASE, TYPE C; REPRODUCIBILITY OF RESULTS; ROC CURVE; SEQUENCE ANALYSIS, DNA;

EID: 84959451069     PISSN: 09600760     EISSN: 18791220     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2016.02.030     Document Type: Review

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