Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany
Murko, Simona, Aseman, Asra Dadkhah, Reinhardt, Friederike, Gramer, Gwendolyn, Okun, Jürgen Günther, Mütze, Ulrike, Santer, René
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
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Journal Article
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population
Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej
Published in Journal of medical biochemistry (01.01.2015)
Published in Journal of medical biochemistry (01.01.2015)
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Journal Article
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease
Polovitskaya, Maya M., Rana, Tanushka, Ullrich, Kurt, Murko, Simona, Bierhals, Tatjana, Vogt, Guido, Stauber, Tobias, Kubisch, Christian, Santer, René, Jentsch, Thomas J.
Published in The Journal of biological chemistry (01.07.2024)
Published in The Journal of biological chemistry (01.07.2024)
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Journal Article
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
Posern, Christian, Dreyer, Benjamin, Maier, Sarah L., Eichler, Florian, Gelb, Michael H., Santer, René, Bley, Annette, Murko, Simona
Published in Molecular genetics and metabolism (01.06.2024)
Published in Molecular genetics and metabolism (01.06.2024)
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Journal Article
Comparison of liquid chromatography with tandem mass spectrometry and ion-exchange chromatography by post-column ninhydrin derivatization for amino acid monitoring
Smon, Andraz, Cuk, Vanja, Brecelj, Jernej, Murko, Simona, Groselj, Urh, Zerjav Tansek, Mojca, Battelino, Tadej, Repic Lampret, Barbka
Published in Clinica chimica acta (01.08.2019)
Published in Clinica chimica acta (01.08.2019)
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Journal Article
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs, Zoltan, Nickel, Miriam, Murko, Simona, Nieves Cobos, Paulina, Schulz, Angela, Santer, René, Kohlschütter, Alfried
Published in Clinica chimica acta (01.05.2019)
Published in Clinica chimica acta (01.05.2019)
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Journal Article
Twelve-year experience with a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs, Zoltan, Nickel, Miriam, Murko, Simona, Cobos, Paulina Nieves, Schulz, Angela, Santer, René, Kohlschütter, Alfried
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
Bekri, Soumeya, Bley, Annette, Brown, Heather A., Chanson, Charlotte, Church, Heather J., Gelb, Michael H., Hong, Xinying, Janzen, Nils, Kasper, David C., Mechtler, Thomas, Morton, Georgina, Murko, Simona, Oliva, Petra, Tebani, Abdellah, Wu, Teresa H.Y.
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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Journal Article
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin
Overduin, Ruben J, Grünert, Sarah C, Besouw, Martine T P, Bolhuis, Mathieu S, Groen, Joost, Schreuder, Andrea B, Woidy, Mathias, Murko, Simona, Santer, René, Derks, Terry G J
Published in Journal of inherited metabolic disease (27.05.2024)
Published in Journal of inherited metabolic disease (27.05.2024)
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Journal Article
Newborn screening for metachromatic leukodystrophy in Northern Germany- a prospective study
Wiesinger, Thomas, Schwarz, Markus, Oliva, Petra, Mechtler, Thomas P., Streubel, Berthold, Chanson, Charlotte, Essing, Mirko M., Murko, Simona, Bley, Annette, Santer, Rene, Kasper, David C.
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia
Groselj, Urh, Murko, Simona, Zerjav Tansek, Mojca, Kovac, Jernej, Trampus Bakija, Alenka, Repic Lampret, Barbka, Battelino, Tadej
Published in Clinical biochemistry (01.01.2015)
Published in Clinical biochemistry (01.01.2015)
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Journal Article
Possibilities for an early diagnosis of CLN2-disease
Murko, Simona, Santer, René, Kohlschuetter, Alfried, Nickel, Miriam, Schulz, Angela, Lukacs, Zoltan
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Newborn screening in southeastern Europe
Groselj, Urh, Tansek, Mojca Zerjav, Smon, Andraz, Angelkova, Natalija, Anton, Dana, Baric, Ivo, Djordjevic, Maja, Grimci, Lindita, Ivanova, Maria, Kadam, Adil, Kotori, Vjosa Mulliqi, Maksic, Hajrija, Marginean, Oana, Margineanu, Otilia, Milijanovic, Olivera, Moldovanu, Florentina, Muresan, Mariana, Murko, Simona, Nanu, Michaela, Lampret, Barbka Repic, Samardzic, Mira, Sarnavka, Vladimir, Savov, Aleksei, Stojiljkovic, Maja, Suzic, Biljana, Tincheva, Radka, Tahirovic, Husref, Toromanovic, Alma, Usurelu, Natalia, Battelino, Tadej
Published in Molecular genetics and metabolism (01.09.2014)
Published in Molecular genetics and metabolism (01.09.2014)
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Journal Article