Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Molecular Genetics and Metabolism

Volumn 114, Issue 1, 2015, Pages 46-50

  Turgeon, Coleman T ^a   Moser, Ann B ^b   Mørkrid, Lars ^c   Magera, Mark J ^a   Gavrilov, Dimitar K ^a   Oglesbee, Devin ^a   Raymond, Kimiyo ^a   Rinaldo, Piero ^a   Matern, Dietrich ^a   Tortorelli, Silvia ^a  

^a Mayo Clinic   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Dried blood spot; Lysophosphatidylcholine; Newborn screening; Peroxisomes; Tandem mass spectrometry; X linked adrenoleukodystrophy

Indexed keywords

LYSOPHOSPHATIDYLCHOLINE;

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISORDERS OF PEROXISOMAL FUNCTIONS; DRIED BLOOD SPOT TESTING; FLOW INJECTION ANALYSIS; HIGH THROUGHPUT SCREENING; HUMAN; INTERMETHOD COMPARISON; LIMIT OF DETECTION; LIPID ANALYSIS; LIQUID CHROMATOGRAPHY; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY; X LINKED ADRENOLEUKODYSTROPHY; BLOOD; PROCEDURES; REFERENCE VALUE; VALIDATION STUDY;

ADRENOLEUKODYSTROPHY; ADULT; CHROMATOGRAPHY, LIQUID; DRIED BLOOD SPOT TESTING; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; INFANT, NEWBORN; LIMIT OF DETECTION; LYSOPHOSPHATIDYLCHOLINES; NEONATAL SCREENING; PEROXISOMAL DISORDERS; REFERENCE VALUES; TANDEM MASS SPECTROMETRY;

EID: 84920401849     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.11.013     Document Type: Article

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