Hasil Pencarian - Ana Drole Torkar

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  1. 1
    Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review

    Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review oleh Ana Drole Torkar, Emil Plesnik, Urh Groselj, Tadej Battelino, Tadej Battelino, Primoz Kotnik, Primoz Kotnik

    Diterbitkan 2020-11-01
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  2. 2
    Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program

    Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program oleh Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tadej Battelino, Tinka Hovnik, Tinka Hovnik

    Diterbitkan 2022-07-01
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  3. 3
    GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV

    GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV oleh Benjamin Lah, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, Urh Grošelj

    Diterbitkan 2022-05-01
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  4. 4
    GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS

    GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS oleh Benjamin Lah, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, Urh Grošelj

    Diterbitkan 2022-05-01
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  5. 5
    Case report: The success of empagliflozin therapy for glycogen storage disease type 1b

    Case report: The success of empagliflozin therapy for glycogen storage disease type 1b oleh Ana Klinc, Urh Groselj, Urh Groselj, Matej Mlinaric, Matjaz Homan, Matjaz Homan, Gasper Markelj, Ajda Mezek Novak, Andreja Sirca Campa, Jaka Sikonja, Jaka Sikonja, Tadej Battelino, Tadej Battelino, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Ana Drole Torkar, Ana Drole Torkar

    Diterbitkan 2024-06-01
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  6. 6
    Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

    Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program oleh Ziga I. Remec, Urh Groselj, Urh Groselj, Ana Drole Torkar, Ana Drole Torkar, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Vanja Cuk, Dasa Perko, Blanka Ulaga, Neza Lipovec, Marusa Debeljak, Marusa Debeljak, Jernej Kovac, Tadej Battelino, Tadej Battelino, Barbka Repic Lampret

    Diterbitkan 2021-04-01
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  7. 7
    Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

    Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation oleh Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj

    Diterbitkan 2020-12-01
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  8. 8
    Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

    Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phen... oleh Dasa Perko, Urh Groselj, Vanja Cuk, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Barbka Repic Lampret

    Diterbitkan 2023-01-01
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  9. 9
    Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series

    Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series oleh Mojca Zerjav Tansek, Jana Kodric, Simona Klemencic, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Doric, Alenka Koren, Simona Avcin, Tadej Battelino, Urh Groselj

    Diterbitkan 2021-09-01
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  10. 10
    Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

    Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient oleh Ana Drole Torkar, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek, Maruša Debeljak, Branislava Stirn Kranjc, Branislava Stirn Kranjc, Tadej Battelino, Tadej Battelino, Primož Kotnik, Primož Kotnik

    Diterbitkan 2021-06-01
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  11. 11
    Current Status of Newborn Screening in Southeastern Europe

    Current Status of Newborn Screening in Southeastern Europe oleh Vanesa Koracin, Matej Mlinaric, Ivo Baric, Ian Brincat, Maja Djordjevic, Ana Drole Torkar, Ana Drole Torkar, Ksenija Fumic, Mirjana Kocova, Tatjana Milenkovic, Florentina Moldovanu, Vjosa Mulliqi Kotori, Michaela Iuliana Nanu, Ziga Iztok Remec, Barbka Repic Lampret, Barbka Repic Lampret, Dimitrios Platis, Alexey Savov, Mira Samardzic, Biljana Suzic, Ildiko Szatmari, Alma Toromanovic, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj

    Diterbitkan 2021-05-01
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  12. 12
    Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

    Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review oleh Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj

    Diterbitkan 2023-09-01
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  13. 13
    Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

    Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant oleh Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj

    Diterbitkan 2022-03-01
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  14. 14
    Newborn Screening in a Pandemic—Lessons Learned

    Newborn Screening in a Pandemic—Lessons Learned oleh Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj

    Diterbitkan 2023-04-01
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  15. 15
    Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini

    Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini oleh Tadej Jalšovec, dr. med., Benjamin Lah, dr. med., Maria Ester Bernardo, dr. med., Ana Drole Torkar, dr. med., Jana Kodrič, univ. dipl. psih., Mojca Žerjav Tanšek, dr. med., Simona Lucija Avčin, dr. med., Alessandro Aiuti, dr. med., Tadej Battelino, dr. med., Urh Grošelj, dr. med.

    Diterbitkan 2022-12-01
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