المؤلفون: Grünert, Sarah C., Derks, Terry G. J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilkakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

المصدر: Grünert , S C , Derks , T G J , Adrian , K , Al-Thihli , K , Ballhausen , D , Bidiuk , J , Bordugo , A , Boyer , M , Bratkovic , D , Brunner-Krainz , M , Burlina , A , Chakrapani , A , Corpeleijn , W , Cozens , A , Dawson , C , Dhamko , H , Milosevic , M D , Eiroa , H , Finezilber , Y , Moura de Souza , C F , Garcia-Jiménez , M C , Gasperini , S , Haas , D ....

الاتاحة: https://research.vumc.nl/en/publications/a9396a00-aa66-442a-8a88-ca4a4b6aae61
https://doi.org/10.1016/j.gim.2022.04.001
http://www.scopus.com/inward/record.url?scp=85129682988&partnerID=8YFLogxK

المؤلفون: Lampret, Barbka Repic, Tansek, Mojca Zerjav, Groselj, Blaz, Sikonja, Jaka, Battelino, Tadej, Groselj, Urh

المساهمون: Agencija za raziskovalno dejavnost Republike Slovenije

المصدر: Data in Brief ; volume 41, page 107926 ; ISSN 2352-3409

الاتاحة: http://dx.doi.org/10.1016/j.dib.2022.107926
https://api.elsevier.com/content/article/PII:S235234092200138X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S235234092200138X?httpAccept=text/plain

المؤلفون: Klinc, Ana, Groselj, Urh, Mlinaric, Matej, Homan, Matjaz, Markelj, Gasper, Novak, Ajda Mezek, Campa, Andreja Sirca, Sikonja, Jaka, Battelino, Tadej, Tansek, Mojca Zerjav, Torkar, Ana Drole

المصدر: Frontiers in Endocrinology; 2024, p1-8, 8p

مصطلحات موضوعية: GLYCOGEN storage disease, WOUND healing, INFLAMMATORY bowel diseases, EMPAGLIFLOZIN, ORAL mucosa, BODY mass index

المؤلفون: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, Van Lingen, Corine, Scarpa, Maurizio, Matthijs, Gert, Nassogne, Marie-Cécile, Debray, François-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Das, Anihb Martin, Hennermann, Julia, Kölker, Stefan, Weinhold, Natalie, Mohnike, Klaus, Gruenert, Sarah, Lund, Allan Meldgaard, Morales-Conejo, Montserrat, Del Toro-Riera, Mireia, Aldámiz-Echevarría, Luis, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, De Lonlay, Pascale, Belmatoug, Nadia, Germain, Dominique P., Cano, Aline, Dobbelaere, Dries, Jones, Simon, Dawson, Charlotte, Deegan, Patrick, Santra, Saikat, Vijay, Suresh, Petkovic Ramadza, Danijela, Barić, Ivo, Žigman, Tamara, Pflieger, György, Szakszon, Katalin, Kaposta, Rita, Gasperini, Serena, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Ceccarini, Giovanni, Federico, Antonio, Simonati, Alessandro, Tumienė, Birutė, Huidekoper, Hidde, Van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kieć-Wilk, Beata, Mendes Gaspar, Ana-Maria Simões, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Rodriges Silva, Esmeralda-Maria Ferreira, De Abreu Freire, Luísa-Maria Diogo Matos, Martins, Esmeralda, Lajic, Svetlana, Darin, Niklas, Groselj, Urh, Tansek, Mojca-Zerjav

المصدر: Orphanet journal of rare diseases., London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]. ; eISSN 1750-1172

مصطلحات موضوعية: access to treatment., European Reference Network., hereditary metabolic diseases., inborn errors of metabolism., orphan medicinal product

وصف الملف: application/pdf

Relation: https://epublications.vu.lt/object/elaba:126054473/126054473.pdf; https://repository.vu.lt/VU:ELABAPDB126054473&prefLang=en_US

الاتاحة: https://repository.vu.lt/VU:ELABAPDB126054473&prefLang=en_US

المؤلفون: 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

المصدر: Slovenian Journal of Public Health, Vol 59, Iss 4, Pp 256-263 (2020)

مصطلحات موضوعية: newborn screening, nbs, tandem mass spectrometry, ms/ ms, next-generation sequencing, ngs, inborn errors of metabolism, iem, presejanje novorojencev, tandemska masna spektrometrija, sekvenciranje nove generacije, vrojene bolezni presnove, ms/ms, Public aspects of medicine, RA1-1270

Relation: https://doi.org/10.2478/sjph-2020-0032; https://doaj.org/toc/1854-2476; https://doaj.org/article/84460da025e54da4ae353bcd7d85a309

الاتاحة: https://doi.org/10.2478/sjph-2020-0032
https://doaj.org/article/84460da025e54da4ae353bcd7d85a309

المؤلفون: Arko, Janez Jan, Debeljak, Marusa, Tansek, Mojca Zerjav, Battelino, Tadej, Groselj, Urh

المصدر: Journal of International Medical Research ; volume 48, issue 8, page 030006052093685 ; ISSN 0300-0605 1473-2300

الاتاحة: http://dx.doi.org/10.1177/0300060520936857
http://journals.sagepub.com/doi/pdf/10.1177/0300060520936857
http://journals.sagepub.com/doi/full-xml/10.1177/0300060520936857

المؤلفون: Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio, Debray, François-Guillaume, Nassogne, Marie-C. cile, van Coster, Rudy, de Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, de Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo-Dionisi, di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, van der Ploeg, Ans, Rubio-Gozalbo, Maria-Estela, van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata, Gaspar, Ana-Maria Simões Mendes, Martins, Esmeralda, Silva, Esmeralda-Maria Ferreira Rodrigues, de Abreu Freire Diogo Matos, Luísa-Maria, Azevedo, Olga, Tansek, Mojca-Zerjav, Couce-Pico, Maria-Luz, Cazorla, Angeles Garcia, Azuara, Luis Aldámiz-Echevarría, del Toro-Riera, Mireia, Lajic, Svetlana, Darin, Niklas, Deegan, Patrick, Vijaym, Suresh, Chronopoulou, Efstathia, Jones, Simon, Chakrapani, Anupanm, Hiwot, Tarekegn

المصدر: Heard , J-M , Bellettato , C , van Lingen , C , Scarpa , M , Debray , F-G , Nassogne , M-C C , van Coster , R , de Meirleir , L , Eyskens , F , Morava , E , Baric , I , Kozich , V , Lund , A M , Germain , D , Belmatoug , N , Guffon , N , Labrune , P , Gouya , L , de Lonlay , P , Schiff , M , Dobbelaere , D , Chabrol , B , Das , A M , ....

الاتاحة: https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5c
https://doi.org/10.1186/s13023-019-1091-8
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066922947&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/31142374

المؤلفون: Saho, Robert, Dolzan, Vita, Tansek, Mojca Zerjav, Pastorakova, Andrea, Petrovic, Robert, Knapkova, Maria, Podkrajsek, Katarina Trebusak, Omladic, Jasna Suput, Bertok, Sara, Stefanija, Magdalena Avbelj, Kotnik, Primoz, Battelino, Tadej, Pribilincova, Zuzana, Groselj, Urh

المصدر: Frontiers in Endocrinology; 3/17/2023, Vol. 14, p1-10, 10p

مصطلحات موضوعية: ADRENOGENITAL syndrome, ADRENAL tumors, NEWBORN screening, DELETION mutation, MEDICAL screening

مصطلحات جغرافية: SLOVENIA, SLOVAKIA

المؤلفون: Groselj, Urh, Tansek, Mojca Zerjav, Podkrajsek, Katarina Trebusak, Battelino, Tadej

المصدر: Journal of Inherited Metabolic Disease ; volume 36, issue 1, page 157-157 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-012-9562-2
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-012-9562-2
https://onlinelibrary.wiley.com/doi/full-xml/10.1007/s10545-012-9562-2

المؤلفون: Tansek, Mojca Zerjav, Groselj, Urh, Kelvisar, Matic, Kobe, Helena, Lampret, Barbka Repic, Battelino, Tadej

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 29, issue 5 ; ISSN 2191-0251 0334-018X

الاتاحة: http://dx.doi.org/10.1515/jpem-2015-0337
https://www.degruyter.com/document/doi/10.1515/jpem-2015-0337/pdf

المؤلفون: Søvik, Oddmund, Tansek, Mojca Zerjav, Sagen, Jørn V., Njølstad, Pål Rasmus

المصدر: Congenital Endocrinopathies ; Endocrine Development ; page 94-105 ; ISSN 1662-2979 1662-2979 ; ISBN 9783805583480 9783805583473

الاتاحة: http://dx.doi.org/10.1159/000111062
http://www.karger.com/Article/Pdf/111062

المؤلفون: Groselj, Urh, Tansek, Mojca Zerjav, Battelino, Tadej

المساهمون: Slovenian Research Agency

المصدر: Molecular Genetics and Metabolism ; volume 113, issue 1-2, page 8-10 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2014.07.019
https://api.elsevier.com/content/article/PII:S1096719214002236?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719214002236?httpAccept=text/plain

المؤلفون: 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

المساهمون: Slovenian National Research Agency

المصدر: Molecular Genetics and Metabolism ; volume 113, issue 1-2, page 42-45 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2014.07.020
https://api.elsevier.com/content/article/PII:S1096719214002522?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719214002522?httpAccept=text/plain

المؤلفون: Groselj, Urh, Tansek, Mojca Zerjav, Podkrajsek, Katarina Trebusak, Battelino, Tadej

المصدر: Clinical Biochemistry ; volume 47, issue 3, page 236 ; ISSN 0009-9120

الاتاحة: http://dx.doi.org/10.1016/j.clinbiochem.2013.11.004
https://api.elsevier.com/content/article/PII:S0009912013005080?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0009912013005080?httpAccept=text/plain

المؤلفون: Groselj, Urh, Tansek, Mojca Zerjav, Katarina Trebusak Podkrajsek, Battelino, Tadej

المصدر: Zdravniški Vestnik, Vol 82, Iss 11 (2013)
Web of Science

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, phenotype, genotype, Slovenia, lcsh:R, phenylketonuria, nutritional and metabolic diseases, lcsh:Medicine, the PKU incidence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::de4b0634ce28eacd80895d20b711106d
http://vestnik.szd.si/index.php/ZdravVest/article/view/993

المؤلفون: Kroos, Marian, Hoogeveen-Westerveld, Marianne, Michelakakis, Helen, Pomponio, Robert, Van der Ploeg, Ans, Halley, Dicky, Reuser, Arnold, Augoustides-Savvopoulou, Persephone, Ausems, Margreet, Llona, Jose Barcena, Bautista Lorite, Juan, van der Beek, Nadine, Bonafe, Luisa, Cuk, Mario, D'Hooghe, Marc, Engelen, Baziel, Farouk, A., Fumic, K., Garcia-Delgado, E., Herzog, Andreas, Hurst, J., Jones, Simon, Kariminejad, M. H., Küçükçongar, Aynur, Lissens, W., Lund, Allan, Majoor-Krakauer, Danielle, Kumamoto, Shingo, Maravi, E., Marie, Suely, Mengel, Eugen, Mavridou, Irene, Munteis Olivas, E., Najmabadi, H., Okumiya, Toshika, Peric, Stojan, Paschke, Eduard, Plecko, Barbara, Robberecht, Wim, Serdaroglu, Piraye, Shboul, Mohammad, Tansek, Mojca Zerjav, Tarnutzer, A., Stojanovic, Vidosava Rakocevic, Tylki-Szymanska, Anna, Venâncio, Maria, Verhoeven, Kristof

المصدر: Human Mutation ; volume 33, issue 8, page 1161-1165 ; ISSN 1059-7794

الاتاحة: http://dx.doi.org/10.1002/humu.22108
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.22108
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22108/fullpdf

المؤلفون: Tansek, Mojca Zerjav, Groselj, Urh, Murko, Simona, Kobe, Helena, Lampret, Barbka Repic, Battelino, Tadej

المساهمون: Slovenian National Research Agency

المصدر: Molecular Genetics and Metabolism ; volume 107, issue 1-2, page 37-42 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2012.07.010
https://api.elsevier.com/content/article/PII:S1096719212002661?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719212002661?httpAccept=text/plain

المؤلفون: Smon, Andraz, Groselj, Urh, Debeljak, Marusa, Tansek, Mojca Zerjav, Bertok, Sara, Stefanija, Magdalena Avbelj, Podkrajsek, Katarina Trebusak, Battelino, Tadej, Lampret, Barbka Repic

المصدر: Journal of International Medical Research; Apr2018, Vol. 46 Issue 4, p1339-1348, 10p

المؤلفون: Tansek, Mojca Zerjav¹, Groselj, Urh¹ urh.groselj@kclj.si, Angelkova, Natalija², Anton, Dana³, Baric, Ivo^4,5, Djordjevic, Maja⁶, Grimci, Lindita⁷, Ivanova, Maria⁸, Kadam, Adil⁹, Kotori, Vjosa¹⁰, Maksic, Hajrija¹¹, Marginean, Oana¹², Margineanu, Otilia¹³, Miljanovic, Olivera¹⁴, Moldovanu, Florentina¹⁵, Muresan, Mariana¹⁶, Nanu, Michaela¹⁵, Samardzic, Mira¹⁴, Sarnavka, Vladimir⁴, Savov, Aleksei⁸

المصدر: Orphanet Journal of Rare Diseases. Jun2015, Vol. 10 Issue 1, p1-7. 7p.

مصطلحات موضوعية: *PHENYLKETONURIA, *PHENYLALANINE, *PEDIATRICIANS, *PATIENTS, *DIETITIANS

مصطلحات جغرافية: EUROPE

المؤلفون: Groselj, Urh¹, Tansek, Mojca Zerjav¹, Kovac, Jernej², Hovnik, Tinka², Podkrajsek, Katarina Trebusak², Battelino, Tadej^1,3 tadej.battelino@mf.uni-lj.si

المصدر: Molecular Genetics & Metabolism. Jun2012, Vol. 106 Issue 2, p142-148. 7p.

مصطلحات موضوعية: *PHENYLALANINE hydroxylase, *GENETIC mutation, *POLYMERASE chain reaction, *STATISTICAL correlation, *DELETION mutation, *HOMOZYGOSITY