Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

Journal of Inherited Metabolic Disease

Volumn 38, Issue 5, 2015, Pages 923-929

  Turgeon, Coleman T ^a   Orsini, Joseph J ^b   Sanders, Karen A ^a   Magera, Mark J ^a   Langan, Thomas J ^c   Escolar, Maria L ^d   Duffner, Patricia ^c   Oglesbee, Devin ^a   Gavrilov, Dimitar ^a   Tortorelli, Silvia ^a   Rinaldo, Piero ^a   Raymond, Kimiyo ^a   Matern, Dietrich ^a  

^a Mayo Clinic College of Medicine   (United States)

^b WADSWORTH CENTER   (United States)

^c UNIVERSITY AT BUFFALO   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSYLCERAMIDASE; GLUCOSYLSPHINGOSINE; METHANOL; N,N DIMETHYL DEXTRO ERYTHRO SPHINGOSINE; PSYCHOSINE; SPHINGOSINE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ASSAY; FOLLOW UP; GENETIC ANALYSIS; GLOBOID CELL LEUKODYSTROPHY; HUMAN; HYDROPHILIC INTERACTION CHROMATOGRAPHY; ISOMER; LIMIT OF DETECTION; MEASUREMENT; MUTATION; NEWBORN; NEWBORN MONITORING; NEWBORN SCREENING; POTENTIAL DIFFERENCE; TANDEM MASS SPECTROMETRY; ADOLESCENT; ADULT; AGED; BLOOD; CHILD; EVALUATION STUDY; INFANT; LEUKODYSTROPHY, GLOBOID CELL; MIDDLE AGED; PRESCHOOL CHILD; PROCEDURES; REFERENCE VALUE; REPRODUCIBILITY; STANDARDS; TOTAL QUALITY MANAGEMENT; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DRIED BLOOD SPOT TESTING; HUMANS; INFANT; INFANT, NEWBORN; LEUKODYSTROPHY, GLOBOID CELL; LIMIT OF DETECTION; MIDDLE AGED; NEONATAL SCREENING; PSYCHOSINE; QUALITY IMPROVEMENT; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; YOUNG ADULT;

EID: 84940461888     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9822-z     Document Type: Article

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