Journal article

Newborn screening for lysosomal storage disorders

Peter J Meikle, Dallas J Grasby, Caroline J Dean, Debbie L Lang, Michelle Bockmann, Alison M Whittle, Michael J Fietz, Henrik Simonsen, Maria Fuller, Douglas A Brooks, John J Hopwood

MOLECULAR GENETICS AND METABOLISM | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2006

Abstract

Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most patients are clinically normal at birth but develop symptoms early in childhood. Despite no curative treatment, a number of therapeutic options are available to improve quality of life. To achieve this, there is a pressing need for newborn screening to identify affected individuals early, before the onset of severe irreversible pathology. We have developed a multiplexed immune-quantification assay of 11 different lysosomal proteins for the identification of individuals with an LSD and evaluated this assay in a retrospective study using blood-spots from; newborns s..

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