Search Results - "Smon, Andraz"

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening by Smon, Andraz, Groselj, Urh, Debeljak, Marusa, Zerjav Tansek, Mojca, Bertok, Sara, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Battelino, Tadej, Repic Lampret, Barbka

“…Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected…”
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Newborn Screening in Slovenia by Šmon, Andraž, Grošelj, Urh, Žerjav Tanšek, Mojca, Biček, Ajda, Oblak, Adrijana, Zupančič, Mirjana, Kržišnik, Ciril, Repič Lampr Et, Barbka, Murko, Simona, Hojker, Sergej, Battelino, Tadej

“…Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the programme in…”
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Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji by Šmon, Andraž, Grošelj, Urh, Žerjav Tanšek, Mojca, Biček, Ajda, Oblak, Adrijana, Zupančič, Mirjana, Kržišnik, Ciril, Repič Lampret, Barbka, Murko, Simona, Hojker, Sergej, Battelino, Tadej

“…Introduction. Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the…”
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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population/Selektivni Skrining Metaboličkih Poremećaja Kod Dečije Populacije U Sloveniji by Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej

“…Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although…”
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Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing by Lampret, Barbka Repič, Remec, Žiga Iztok, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Šmon, Andraz, Koračin, Vanesa, Čuk, Vanja, Perko, Daša, Ulaga, Blanka, Jelovšek, Ana Marija, Debeljak, Maruša, Kovač, Jernej, Battelino, Tadej, Grošelj, Urh

“…In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and…”
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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 by Smon, Andraz, Cuk, Vanja, Brecelj, Jernej, Murko, Simona, Groselj, Urh, Zerjav Tansek, Mojca, Battelino, Tadej, Repic Lampret, Barbka

“…Precise quantification of amino acids (AAs) is mandatory for successful diagnosis and monitoring of patients with metabolic diseases. We compared ion-exchange…”
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Next generation sequencing as a follow-up test in an expanded newborn screening programme by Smon, Andraz, Repic Lampret, Barbka, Groselj, Urh, Zerjav Tansek, Mojca, Kovac, Jernej, Perko, Dasa, Bertok, Sara, Battelino, Tadej, Trebusak Podkrajsek, Katarina

“…Contrary to many western European countries, most south-eastern European countries do not have an expanded newborn screening (NBS) program using tandem mass…”
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Newborn screening in southeastern Europe by 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

“…The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region,…”
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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel mutations identified in a retrospective screening by Andraz Smon, Urh Groselj, Marusa Debeljak, Mojca Zerjav Tansek, Sara Bertok, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Tadej Battelino, Barbka Repic Lampret

“…Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected…”
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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population by Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej

“…Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these…”
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Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji by Šmon Andraž, Grošelj Urh, Žerjav Tanšek Mojca, Biček Ajda, Oblak Adrijana, Zupančič Mirjana, Kržišnik Ciril, Repič Lampret Barbka, Murko Simona, Hojker Sergej, Battelino Tadej

“…Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še…”
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