Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
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Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing. / Spiekerkoetter, Ute; Haussmann, Ulrike; Mueller, Martina; Frank, Ter Veld; Stehn, Maren; Santer, René; Lukacs, Zoltan.
in: J PEDIATR-US, Jahrgang 157, Nr. 4, 4, 2010, S. 668-673.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
AU - Spiekerkoetter, Ute
AU - Haussmann, Ulrike
AU - Mueller, Martina
AU - Frank, Ter Veld
AU - Stehn, Maren
AU - Santer, René
AU - Lukacs, Zoltan
PY - 2010
Y1 - 2010
N2 - To evaluate newborn screening (NBS) for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), we further characterized newborns with elevation of one or all C14-carnitine derivatives on NBS from a total of 90 338 newborns.
AB - To evaluate newborn screening (NBS) for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), we further characterized newborns with elevation of one or all C14-carnitine derivatives on NBS from a total of 90 338 newborns.
M3 - SCORING: Zeitschriftenaufsatz
VL - 157
SP - 668
EP - 673
JO - J PEDIATR-US
JF - J PEDIATR-US
SN - 0022-3476
IS - 4
M1 - 4
ER -