A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns

Journal of Lipid Research

Volumn 55, Issue 1, 2014, Pages 146-154

  DeBarber, Andrea E ^a   Luo, Jenny ^a   Star Weinstock, Michal ^b   Purkayastha, Subhasish ^b   Geraghty, Michael T ^b   Chiang, John ^b,c   Merkens, Louise S ^d,f,g   Pappu, Anuradha S ^d   Steiner, Robert D ^d,e  

^a Casey Molecular Diagnostic Laboratory   (United States)

^b Department of Pediatrics ^*

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d Chemistry and Consumables R and D   (United States)

^e MDS SCIEX   (Canada)

^f CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^g Marshfield Research Clinic Foundation   (United States)

Author keywords

Bile acid; CYP27A1; Derivatization; Ketosterol; LC ESI MS MS; Leukodystrophy; Newborn screening

Indexed keywords

CHOLESTANETRIOL 26 MONOOXYGENASE; TRIMETHYLAMMONIUM SALT DERIVATIVE;

ARTICLE; BILE ACID SYNTHESIS; BLOOD ANALYSIS; CEREBROTENDINOUS XANTHOMATOSIS; DISEASE COURSE; DRIED BLOOD SPOT TESTING; GAS CHROMATOGRAPHY; GENE MUTATION; HOMOZYGOSITY; HUMAN; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; MORBIDITY; MORTALITY; NEWBORN; PRIORITY JOURNAL;

BILE ACID; CYP27A1; DERIVATIZATION; KETOSTEROL; LC-ESI-MS/MS; LEUKODYSTROPHY; NEWBORN SCREENING;

ADULT; CALIBRATION; CASE-CONTROL STUDIES; CHOLESTENONES; DRIED BLOOD SPOT TESTING; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; REFERENCE STANDARDS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84891355568     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.P043273     Document Type: Article

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