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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.
Genet Med. 2011.
PMID: 21325949
Free article.
Newborn screening for guanidinoacetate methyl transferase deficiency.
Pitt JJ, Tzanakos N, Nguyen T.
Pitt JJ, et al. Among authors: tzanakos n.
Mol Genet Metab. 2014 Mar;111(3):303-304. doi: 10.1016/j.ymgme.2014.01.005. Epub 2014 Jan 15.
Mol Genet Metab. 2014.
PMID: 24477282
No abstract available.
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An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Tal G, Pitt J, Morrisy S, Tzanakos N, Boneh A.
Tal G, et al. Among authors: tzanakos n.
Mol Genet Metab. 2015 Mar;114(3):403-8. doi: 10.1016/j.ymgme.2014.12.435. Epub 2015 Jan 8.
Mol Genet Metab. 2015.
PMID: 25604974
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VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt JJ.
Boneh A, et al. Among authors: tzanakos n.
Mol Genet Metab. 2006 Jun;88(2):166-70. doi: 10.1016/j.ymgme.2005.12.012. Epub 2006 Feb 20.
Mol Genet Metab. 2006.
PMID: 16488171
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Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.
Barends M, Pitt J, Morrissy S, Tzanakos N, Boneh A; Newborn Screening Laboratory Staff.
Barends M, et al. Among authors: tzanakos n.
Mol Genet Metab. 2014 Sep-Oct;113(1-2):46-52. doi: 10.1016/j.ymgme.2014.07.003. Epub 2014 Jul 11.
Mol Genet Metab. 2014.
PMID: 25047749
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4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.
Pitt JJ, Willis F, Tzanakos N, Belostotsky R, Frishberg Y.
Pitt JJ, et al. Among authors: tzanakos n.
JIMD Rep. 2015;15:1-6. doi: 10.1007/8904_2013_291. Epub 2014 Feb 22.
JIMD Rep. 2015.
PMID: 24563386
Free PMC article.
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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.
Massie J, Curnow L, Tzanakos N, Francis I, Robertson CF.
Massie J, et al. Among authors: tzanakos n.
Arch Dis Child. 2006 Mar;91(3):222-5. doi: 10.1136/adc.2005.081349. Epub 2005 Oct 21.
Arch Dis Child. 2006.
PMID: 16243854
Free PMC article.
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