Journal article

Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy

PJ Meikle, E Ranieri, H Simonsen, T Rozaklis, SL Ramsay, PD Whitfield, M Fuller, E Christensen, F Skovby, JJ Hopwood

PEDIATRICS | AMER ACAD PEDIATRICS | Published : 2004

Abstract

OBJECTIVE: To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder. METHODS: A retrospective analysis was conducted of Guthrie cards that were collected from newborns in Denmark during the period 1982-1997. Patients whose lysosomal storage disorder (LSD; 47 representing 12 disorders) was diagnosed in Denmark during the period 1982-1997 were selected, and their Guthrie cards were retrieved from storage. Control cards (227) were retrieved from the same period. Additional control cards (273) were collected from the South Australian Scr..

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