Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

Molecular Genetics and Metabolism Reports

Volumn 7, Issue , 2016, Pages 11-15

  Bleyle, Lisa ^a   Huidekoper, Hidde H ^b,c   Vaz, Frederic M ^c   Singh, Renu ^a   Steiner, Robert D ^d   Debarber, Andrea E ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

7 12 C4 7 ,12 dihydroxy 4 cholesten 3 one; Abbreviations CTX cerebrotendinous xanthomatosis; CDCA chenodeoxycholic acid; DBS dried bloodspots; ESI MS MS liquid chromatography electrospray ionization tandem MS; GC MS gas chromatography mass spectrometry; IRB institutional Review Board; LLOQ lower limit of quantification; MRM multiple reaction monitoring; QAO quaternary amonoxy; QCs quality control samples; RSD relative standard deviation; S N signal to noise

Indexed keywords

7ALPHA,12ALPHA DIHYDROXY 4 CHOLESTEN 3 ONE; STEROL DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CONTROLLED STUDY; DERIVATIZATION; DRIED BLOOD SPOT TESTING; ELECTROSPRAY MASS SPECTROMETRY; HIGH THROUGHPUT SCREENING; HUMAN; ISOTOPE DILUTION ASSAY; LIQUID CHROMATOGRAPHY; NEWBORN; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY;

EID: 84960409966     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2016.02.002     Document Type: Article

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