Rosemarie L Gerace

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OBJECTIVE To assess the performance and impact of a two tier neonatal screening programme for cystic fibrosis based on an initial estimation of immunoreactive trypsinogen followed by direct gene analysis. DESIGN Four year prospective study of two tier screening strategy. First tier: immunoreactive trypsinogen measured in dried blood spot samples from(More)
OBJECTIVE To determine the biochemical screening rate of newborns in South Australia and the factors associated with babies not being screened. DESIGN Matching of data in the SA Newborn Screening Centre database (acquired from Guthrie cards) with the SA perinatal data collection (compiled from supplementary birth records) to determine how many newborns(More)
PURPOSE To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical(More)
We have demonstrated that the lysosome associated membrane protein (LAMP-1) is elevated in plasma from approximately 70% of lysosomal storage disorder patients. As part of the development of a newborn screening program for lysosomal storage disorders we have developed a first tier screening assay based upon the level of LAMP-I in blood spots taken from(More)
A coated microtiter-well, enzyme-linked immunometric assay for quantifying immunoreactive trypsinogen in dried blood spots was modified to use time-resolved fluorescence of europium in place of end-point enzymatic color development as the quantification step. The streptavidin-horseradish peroxidase and color development solutions supplied as packaged(More)
roidism are 46% higher than those in hypothyroidism. Existing literature suggests that it is creatinine that is providing the correct assessment of GFR changes (17 ), but because definitive work formally assessing GFR in thyroid disease (using a “gold standard” marker) has yet to be performed, this cannot be stated categorically. Until now, one of the most(More)
Flow injection electrospray ionization tandem mass spectrometric methods for succinylacetone (SA) in 250 microL urine, using d5-SA as internal standard, and in 3 mm dried bloodspots, using 13C4-SA as internal standard, are described. Selectivity and sensitivity of analysis is achieved by the use of a mono-Girard T derivative. Measured SA infant urine normal(More)
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