Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots

Journal of Inherited Metabolic Disease

Volumn 34, Issue 2, 2011, Pages 409-414

  Ko, Dae Hyun ^a   Jun, Sun Hee ^b   Park, Kyoung Un ^a,b   Song, Sang Hoon ^b   Kim, Jin Q ^c   Song, Junghan ^a,b  

^a Seoul National University College of Medicine   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Konkuk University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSE PHOSPHATE; URIDINE DIPHOSPHATE GALACTOSE;

ARTICLE; BLOOD ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME MECHANISM; GALACTOSEMIA; HUMAN; NEWBORN; NEWBORN SCREENING; SUPERNATANT; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY;

CASE-CONTROL STUDIES; CHEMISTRY, CLINICAL; ENZYME ASSAYS; ERYTHROCYTES; GALACTOSEMIAS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; URIDINE DIPHOSPHATE GALACTOSE;

EID: 79955691704     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9291-y     Document Type: Article

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