Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences

Volumn 908, Issue , 2012, Pages 9-17

  Mechtler, Thomas P ^a   Metz, Thomas F ^a   Müller, Hannes G ^a   Ostermann, Katharina ^a   Ratschmann, Rene ^a   De Jesus, Victor R ^b   Shushan, Bori ^c   Di Bussolo, Joseph M ^d   Herman, Joseph L ^d   Herkner, Kurt R ^a   Kasper, David C ^a  

^a UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^b CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^c Clinical Mass Spec Consultants   (Canada)

^d Thermo Fisher Scientific   (United States)

Author keywords

Lysosomal storage disorders; Multiplex assay; Newborn screening; Short incubation; Tandem mass spectrometry; Turbulent flow chromatography

Indexed keywords

LYSOSOMAL STORAGE DISORDER; MULTIPLEX ASSAYS; NEWBORN SCREENING; SHORT-INCUBATION; TANDEM MASS SPECTROMETRY;

ASSAYS; CHROMATOGRAPHY; DEUTERIUM; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; MULTIPLEXING; SAMPLING; TURBULENT FLOW;

DIAGNOSIS;

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; GLUCOSYLCERAMIDASE; LEVO IDURONIDASE; LYSOSOME ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HIGH RISK POPULATION; HUMAN; HURLER SYNDROME; INCUBATION TIME; LIQUID LIQUID EXTRACTION; LYSOSOME STORAGE DISEASE; MALE; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; NIEMANN PICK DISEASE; PRIORITY JOURNAL; SOLID PHASE EXTRACTION; TANDEM MASS SPECTROMETRY; TURBULENT FLOW; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; WORKFLOW;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DRIED BLOOD SPOT TESTING; DRUG STABILITY; ENZYME ASSAYS; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; INFANT, NEWBORN; LIQUID-LIQUID EXTRACTION; LYSOSOMAL STORAGE DISEASES; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; TANDEM MASS SPECTROMETRY;

EID: 84867475236     PISSN: 15700232     EISSN: 1873376X     Source Type: Journal    
DOI: 10.1016/j.jchromb.2012.09.012     Document Type: Article

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