Publications by authors named "Simona Murko"

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Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
Ruben J Overduin, Sarah C Grünert, Martine T P Besouw, Mathieu S Bolhuis, Joost Groen, Simona Murko

J Inherit Metab Dis· September 2024

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Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Katharina Mengler, Sven F Garbade, Florian Gleich, Eva Thimm, Petra May, Simona Murko

Pediatrics· August 2024

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Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Maya M Polovitskaya, Tanushka Rana, Kurt Ullrich, Simona Murko, Tatjana Bierhals

J Biol Chem· July 2024

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Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
Christian Posern, Benjamin Dreyer, Sarah L Maier, Florian Eichler, Michael H Gelb, Simona Murko

Mol Genet Metab· June 2024

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Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Soumeya Bekri, Annette Bley, Heather A Brown, Charlotte Chanson, Heather J Church, Simona Murko

Mol Genet Metab· May 2024

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Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors.
Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden

Mol Genet Metab Rep· June 2023

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Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.
Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun

JIMD Rep· January 2023

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Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic () Variants.
Sarah C Grünert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko

Genes (Basel)· November 2021

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Comparison of liquid chromatography with tandem mass spectrometry and ion-exchange chromatography by post-column ninhydrin derivatization for amino acid monitoring.
Andraz Smon, Vanja Cuk, Jernej Brecelj, Simona Murko, Urh Groselj

Clin Chim Acta· August 2019

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Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
Zoltan Lukacs, Miriam Nickel, Simona Murko, Paulina Nieves Cobos, Angela Schulz

Clin Chim Acta· May 2019

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A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Barbka Repic Lampret, Simona Murko, Marusa Debeljak, Mojca Zerjav Tansek, Petja Fister

Biochem Med (Zagreb)· August 2015

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Newborn screening in southeastern Europe.
Urh Groselj, Mojca Zerjav Tansek, Andraz Smon, Natalija Angelkova, Dana Anton, Simona Murko

Mol Genet Metab· June 2015

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Newborn Screening in Slovenia.
Andraž Šmon, Urh Grošelj, Mojca Žerjav Tanšek, Ajda Biček, Adrijana Oblak, Simona Murko

Zdr Varst· June 2015

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Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia.
Urh Groselj, Simona Murko, Mojca Zerjav Tansek, Jernej Kovac, Alenka Trampus Bakija

Clin Biochem· January 2015

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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.
Barbka Repič Lampret, Simona Murko, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Maruša Debeljak

J Med Biochem· January 2015

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Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Mojca Zerjav Tansek, Urh Groselj, Simona Murko, Helena Kobe, Barbka Repic Lampret

Mol Genet Metab· September 2012

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A complex investigation of the extent of pollution in sediments of the Sava River. Part 1: selected elements.
Radmila Milacic, Janez Scancar, Simona Murko, David Kocman, Milena Horvat

Environ Monit Assess· April 2010

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Problems and progresses in speciation of Al in human serum: an overview.
Radmila Milacic, Simona Murko, Janez Scancar

J Inorg Biochem· November 2009

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The use of EAF dust in cement composites: assessment of environmental impact.
Tina Sturm, Radmila Milacic, Simona Murko, Mitja Vahcic, Ana Mladenovic

J Hazard Mater· July 2009

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Convective interaction media monolithic chromatography with ICPMS and ultraperformance liquid chromatography-electrospray ionization MS detection: a powerful tool for speciation of aluminum in human serum at normal concentration levels.
Simona Murko, Radmila Milacic, Bogdan Kralj, Janez Scancar

Anal Chem· June 2009

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Leachability of Cr(VI) and other metals from asphalt composites with addition of filter dust.
Mitja Vahcic, Radmila Milacic, Ana Mladenovic, Simona Murko, Tea Zuliani

Waste Manag· December 2008

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Speciation of Al in human serum by convective-interaction media fast-monolithic chromatography with inductively coupled plasma mass spectrometric detection.
Simona Murko, Radmila Milacic, Janez Scancar

J Inorg Biochem· September 2007

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