Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
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Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. / Dajnoki, Angéla; Fekete, György; Keutzer, Joan; Orsini, Joseph J; Jesus, De; Victor, R; Chien, Yin-Hsiu; Lukacs, Zoltan; Lukacs, Zoltan; Mühl, Adolf; Zhang, X Kate; Bodamer, Olaf.
in: CLIN CHIM ACTA, Jahrgang 411, Nr. 19-20, 19-20, 2010, S. 1428-1431.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
AU - Dajnoki, Angéla
AU - Fekete, György
AU - Keutzer, Joan
AU - Orsini, Joseph J
AU - Jesus, De
AU - Victor, R
AU - Chien, Yin-Hsiu
AU - Lukacs, Zoltan
AU - Lukacs, Zoltan
AU - Mühl, Adolf
AU - Zhang, X Kate
AU - Bodamer, Olaf
PY - 2010
Y1 - 2010
N2 - Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity.
AB - Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity.
M3 - SCORING: Zeitschriftenaufsatz
VL - 411
SP - 1428
EP - 1431
JO - CLIN CHIM ACTA
JF - CLIN CHIM ACTA
SN - 0009-8981
IS - 19-20
M1 - 19-20
ER -