Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.
Institute of Clinical Chemistry, University Medical Center Hamburg-Eppendorf, Germany. Electronic address: lukacs@uke.uni-hamburg.de.
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Lukacs
Institute of Clinical Chemistry, University Medical Center Hamburg-Eppendorf, Germany.
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Nieves Cobos
Institute of Clinical Chemistry, University Medical Center Hamburg-Eppendorf, Germany.
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Keil
Villa Metabolica, Mainz, Germany.
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Hartung
Villa Metabolica, Mainz, Germany.
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Mengel
Villa Metabolica, Mainz, Germany.
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Beck
Neurology, University of Halle-Wittenberge, Germany.
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Deschauer
Neurology, University of Halle-Wittenberge, Germany.
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Hanisch
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Germany.
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Santer
D059788:Dried Blood Spot Testing / Q000379:methods*; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis; D005470:Fluorometry / Q000379:methods*; D005776:Gaucher Disease / Q000097:blood / Q000175:diagnosis; D006009:Glycogen Storage Disease Type II / Q000097:blood / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D015997:Neonatal Screening; D012306:Risk