Publications by authors named "Vassiliki Konstantopoulou"

30Publications

25th Annual Meeting of the German Society of Newborn Screening.

Int J Neonatal Screen 2018 Jun 4;4(2):17. Epub 2018 Jun 4.

Austrian Newborn Screening and Metabolic Lab, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.

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http://dx.doi.org/10.3390/ijns4020017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510186PMC
June 2018

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.

Diagnostics (Basel) 2020 Aug 24;10(9). Epub 2020 Aug 24.

Austrian Newborn Screening, Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.

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http://dx.doi.org/10.3390/diagnostics10090626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555675PMC
August 2020

Mutations in Cause Metabolic Reprogramming and Disruption of the Electron Transfer.

Cells 2019 09 25;8(10). Epub 2019 Sep 25.

Mass Spectrometry Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.

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http://dx.doi.org/10.3390/cells8101149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829531PMC
September 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Orphanet J Rare Dis 2018 07 20;13(1):122. Epub 2018 Jul 20.

Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1186/s13023-018-0875-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800PMC
July 2018

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

J Neurol Sci 2017 Dec 6;383:123-127. Epub 2017 Nov 6.

Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.jns.2017.10.035DOI Listing
December 2017

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Mol Genet Metab 2017 09 27;122(1-2):67-75. Epub 2017 Jun 27.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.012DOI Listing
September 2017

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.

Mol Med Rep 2016 Nov 10;14(5):4906-4910. Epub 2016 Oct 10.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501‑1194, Japan.

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http://dx.doi.org/10.3892/mmr.2016.5819DOI Listing
November 2016

Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria.

Clin Biochem 2017 Feb 12;50(3):159-161. Epub 2016 Oct 12.

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel, 18-20 Vienna, Austria.

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http://dx.doi.org/10.1016/j.clinbiochem.2016.10.001DOI Listing
February 2017

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

Eur J Pediatr 2015 Jan 3;174(1):113-8. Epub 2014 Dec 3.

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Wien, Austria,

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http://dx.doi.org/10.1007/s00431-014-2463-7DOI Listing
January 2015