Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders

Clinica Chimica Acta

Volumn 413, Issue 15-16, 2012, Pages 1270-1273

  Orsini, Joseph J ^a   Martin, Monica M ^a   Showers, Amanda L ^a   Bodamer, Olaf A ^b   Zhang, X Kate ^c   Gelb, Michael H ^d,e   Caggana, Michele ^a  

^a WADSWORTH CENTER   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c GENZYME CORPORATION   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Lysosomal storage disorder; Multiplex; Newborn screening; Tandem mass spectrometry

Indexed keywords

ACID BETA GLUCOCEREBROSIDASE; ACID GALACTOSIDASE A; GALACTOSIDASE; GALACTOSYLCERAMIDASE; GLUCOSIDASE; GLUCOSYLCERAMIDASE; SPHINGOMYELIN PHOSPHODIESTERASE; UNCLASSIFIED DRUG;

ALGORITHM; ARTICLE; ASSAY; CONTROLLED STUDY; DNA DETERMINATION; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MULTIPLEX ASSAY; NEWBORN; NEWBORN SCREENING; POPULATION RESEARCH; PRIORITY JOURNAL; QUALITY CONTROL; SCREENING TEST; TANDEM MASS SPECTROMETRY;

ALPHA-GLUCOSIDASES; DRIED BLOOD SPOT TESTING; FABRY DISEASE; GALACTOSYLCERAMIDASE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; LEUKODYSTROPHY, GLOBOID CELL; LYSOSOMAL STORAGE DISEASES; NEONATAL SCREENING; NIEMANN-PICK DISEASES; QUALITY CONTROL; SPHINGOMYELIN PHOSPHODIESTERASE; TANDEM MASS SPECTROMETRY;

EID: 84861337794     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.04.012     Document Type: Article

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