A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios

Journal of Lipid Research

Volumn 58, Issue 5, 2017, Pages 1002-1007

  Vaz, Frédéric M ^a   Bootsma, Albert H ^a   Kulik, Willem ^a   Verrips, Aad ^b   Wevers, Ron A ^c   Schielen, Peter C ^d   DeBarber, Andrea E ^e   Huidekoper, Hidde H ^f  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Bile acid metabolism; Bile acids and salts biosynthesis; CYP27A1; Inborn errors of metabolism; Tandem mass spectrometry

Indexed keywords

BILE ACID; CHOLESTANETETROL GLUCURONIDE; GLUCURONIDE; METHANOL; TAUROCHENODEOXYCHOLIC ACID; TAUROTRIHYDROXYCHOLESTANOIC ACID; UNCLASSIFIED DRUG;

ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTASIS; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PREMATURITY; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; ZELLWEGER SYNDROME; ADOLESCENT; BLOOD; CHILD; COMPLICATION; FEMALE; MALE; METABOLISM; PRESCHOOL CHILD; PROCEDURES;

ADOLESCENT; BILE ACIDS AND SALTS; CHILD; CHILD, PRESCHOOL; CHOLESTASIS; DRIED BLOOD SPOT TESTING; FEMALE; GLUCURONIDES; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 85018915947     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.P075051     Document Type: Article

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