The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
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The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives. / Reuser, Arnold J; Verheijen, Frans W; Bali, Deeksha; Diggelen, van; Otto, P; Germain, Dominique P; Lukacs, Zoltan; Lukacs, Zoltan; Mühl, Adolf; Olivova, Petra; Piraud, Monique; Wuyts, Birgit; Zhang, Kate; Keutzer, Joan.
in: MOL GENET METAB, Jahrgang 104, Nr. 1-2, 1-2, 2011, S. 144-148.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
AU - Reuser, Arnold J
AU - Verheijen, Frans W
AU - Bali, Deeksha
AU - Diggelen, van
AU - Otto, P
AU - Germain, Dominique P
AU - Lukacs, Zoltan
AU - Lukacs, Zoltan
AU - Mühl, Adolf
AU - Olivova, Petra
AU - Piraud, Monique
AU - Wuyts, Birgit
AU - Zhang, Kate
AU - Keutzer, Joan
PY - 2011
Y1 - 2011
N2 - Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. Diagnosis of LSD patients is often delayed, which is of particular concern as therapeutic outcomes (e.g. enzyme replacement therapy) are generally more favorable in early disease stages. Experts in the field of LSDs diagnostics and screening programs convened and reviewed experiences with the use of DBS methods, and discuss the diagnostic challenges, possible applications and quality programs in this paper. Given the easy sampling and shipping and stability of samples, DBS has evident advantages over other laboratory methods and can be particularly helpful in the early identification of affected LSD patients through neonatal screening, high-risk population screening or family screening.
AB - Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. Diagnosis of LSD patients is often delayed, which is of particular concern as therapeutic outcomes (e.g. enzyme replacement therapy) are generally more favorable in early disease stages. Experts in the field of LSDs diagnostics and screening programs convened and reviewed experiences with the use of DBS methods, and discuss the diagnostic challenges, possible applications and quality programs in this paper. Given the easy sampling and shipping and stability of samples, DBS has evident advantages over other laboratory methods and can be particularly helpful in the early identification of affected LSD patients through neonatal screening, high-risk population screening or family screening.
KW - Humans
KW - Reference Standards
KW - Quality Control
KW - Dried Blood Spot Testing/methods/standards/trends
KW - Lysosomal Storage Diseases/blood/diagnosis
KW - Research Report
KW - Humans
KW - Reference Standards
KW - Quality Control
KW - Dried Blood Spot Testing/methods/standards/trends
KW - Lysosomal Storage Diseases/blood/diagnosis
KW - Research Report
M3 - SCORING: Journal article
VL - 104
SP - 144
EP - 148
JO - MOL GENET METAB
JF - MOL GENET METAB
SN - 1096-7192
IS - 1-2
M1 - 1-2
ER -
