Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344229 | Molecular Genetics and Metabolism | 2011 | 5 Pages |
Abstract
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.
Keywords
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Authors
Arnold J. Reuser, Frans W. Verheijen, Deeksha Bali, Otto P. van Diggelen, Dominique P. Germain, Wuh-Liang Hwu, Zoltan Lukacs, Adolf Mühl, Petra Olivova, Monique Piraud, Birgit Wuyts, Kate Zhang, Joan Keutzer,