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VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified sevenExpand
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Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing
Aims: To investigate the immunoreactive trypsinogen (IRT) values above the usual 99th centile laboratory cut-off and determine the value of offering further testing to those infants with a markedlyExpand
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Newborn screening for guanidinoacetate methyl transferase deficiency.
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4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.
Primary hyperoxaluria type 3 (PH3) is a recently identified inborn error of 4-hydroxyproline metabolism causing kidney stone disease. Diagnosis to date has relied on mutation detection. The excretionExpand
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An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
BACKGROUND AND OBJECTIVE Tandem mass spectrometry-based newborn screening (NBS) is a powerful screening tool. The NBS process includes sample collection, shipment, testing, analysis, reporting andExpand
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Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.
BACKGROUND In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify "patients" with "classical" inborn errors of metabolism who areExpand
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