Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

Clinica Chimica Acta

Volumn 455, Issue , 2016, Pages 39-45

  Romanello, Milena ^a   Zampieri, Stefania ^a   Bortolotti, Nadia ^a   Deroma, Laura ^a   Sechi, Annalisa ^a   Fiumara, Agata ^b   Parini, Rossella ^c   Borroni, Barbara ^d   Brancati, Francesco ^e   Bruni, Amalia ^f   Russo, Cinzia V ^g   Bordugo, Andrea ^h   Bembi, Bruno ^a   Dardis, Andrea ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

^d UNIVERSITY OF BRESCIA   (Italy)

^e UNIVERSITY OF ROME TOR VERGATA   (Italy)

^f Regional Neurogenetic Centre   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h Regional Centre for Newborn Screening   (Italy)

Author keywords

Liquid chromatography tandem mass spectrometry; Niemann Pick; Oxysterols; Variant biochemical phenotype

Indexed keywords

7 OXOCHOLESTEROL; CHOLESTAN 3 BETA, 5 ALPHA, 6 BETA TRIOL; STEROL; UNCLASSIFIED DRUG; 7-KETOCHOLESTEROL; CARRIER PROTEIN; CHOLESTANE DERIVATIVE; CHOLESTEROL DERIVATIVE; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; FALSE NEGATIVE RESULT; GENE; GENE MUTATION; HEPATOSPLENOMEGALY; HUMAN; ITALIAN (CITIZEN); LIMIT OF DETECTION; LIMIT OF QUANTITATION; LIPID ANALYSIS; LIQUID CHROMATOGRAPHY; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; NPC1 GENE; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; SMPD1 GENE; TANDEM MASS SPECTROMETRY; BLOOD; CALIBRATION; GENETICS; ITALY; MUTATION; REPRODUCIBILITY;

CALIBRATION; CARRIER PROTEINS; CHOLESTANES; COHORT STUDIES; HUMANS; ITALY; KETOCHOLESTEROLS; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASES; REPRODUCIBILITY OF RESULTS; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84955491530     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2016.01.003     Document Type: Article

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