Search Results - "Tzanakos, N"

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening by Barends, M., Pitt, J., Morrissy, S., Tzanakos, N., Boneh, A.

“…In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify “patients” with “classical” inborn errors…”
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VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis by Boneh, A., Andresen, B.S., Gregersen, N., Ibrahim, M., Tzanakos, N., Peters, H., Yaplito-Lee, J., Pitt, J.J.

“…We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria…”
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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 by Massie, J, Curnow, L, Tzanakos, N, Francis, I, Robertson, C F

“…Aims: To investigate the immunoreactive trypsinogen (IRT) values above the usual 99th centile laboratory cut-off and determine the value of offering further…”
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