Publications by authors named "Rosemarie Gerace"
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.
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 range (n=20) is 0.
View Article and Find Full Text PDFA 50-year-old man was transferred to the intensive care unit with high anion gap metabolic acidosis. Investigations suggested a diagnosis of pyroglutamic acidaemia. Factors contributing to the acidosis were medications (paracetamol and flucloxacillin), sepsis and renal failure.
View Article and Find Full Text PDFObjective: 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 missed screening. Risk factors for missed screening were identified from sociodemographic and clinical variables recorded in the perinatal data collection and analysed by multivariable unconditional logistic regression analysis.