المؤلفون: Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O´Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C. J. I.

مصطلحات موضوعية: neonatal screening, newborn screening, congenital metabolic disorders, rare diseases, dried blood spot screening, congenital endocrine disorders, International Society for Neonatal Screening, ISNS, public health, info:eu-repo/classification/ddc/610, ddc:610

العلاقة: 15

الإتاحة: https://ul.qucosa.de/id/qucosa%3A85163Test
https://ul.qucosa.de/api/qucosa%3A85163/attachment/ATT-0Test/

المؤلفون: Zybert, Katarzyna, Borawska-Kowalczyk, Urszula, Wozniacki, Lukasz, Dawidziuk, Malwina, Ołtarzewski, Mariusz, Sands, Dorota

المصدر: Jornal de Pediatria. July 2022 98(4)

مصطلحات موضوعية: Cystic fibrosis, Newborn screening, False-negatives, Diagnosis, Sweat test

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572022000400419Test

المؤلفون: Jacobs, An, Warnants, Maarten, Vollmuth, Veronika, Winkler, Christiane, Weiss, Andreas, Ziegler, Anette Gabriele, Lundgren, Markus, Elding Larsson, Helena, Kordonouri, Olga, Von Dem Berge, Thekla, Zielmann, Marie Luise, Bonifacio, Ezio, Hommel, Angela, Ołtarzewski, Mariusz, Szypowska, Agnieszka, Besser, Rachel, Todd, John A., Casteels, Kristina

المصدر: BMJ Paediatrics Open EXODIAB: Excellence of Diabetes Research in Sweden. 8(1)

مصطلحات موضوعية: Endocrinology, Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Medical and Health Sciences, Clinical Medicine, Endocrinology and Diabetes, Pediatrik, Pediatrics

الوصول الحر: https://lup.lub.lu.se/record/dbc69edd-d043-458e-8d43-89ba8f453eadTest
http://dx.doi.org/10.1136/bmjpo-2023-002212Test

المؤلفون: Hummel, Sandra, Rosenberger, Sarah, von dem Berge, Thekla, Besser, Rachel E. J., Casteels, Kristina, Hommel, Angela, Kordonouri, Olga, Elding Larsson, Helena, Lundgren, Markus, Marcus, Benjamin A., Oltarzewski, Mariusz, Rochtus, Anne, Szypowska, Agnieszka, Todd, John A., Weiss, Andreas, Winkler, Christiane, Bonifacio, Ezio, Ziegler, Anette-G.

المساهمون: Swedish Diabetes Foundation, EASD Novo Nordisk Foundation - Diabetes Prize for Excellence, Bundesministerium für Bildung und Forschung, The Leona M. and Harry B. Helmsley Charitable Trust, German Center for Diabetes Research, Helmholtz Zentrum München, Juvenile Diabetes Research Foundation International, Wellcome Trust, Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH)

المصدر: Diabetologia ; ISSN 0012-186X 1432-0428

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1007/s00125-023-06079-zTest

المؤلفون: Munck, Anne, Berger, Daria O., Southern, Kevin W., Carducci, Carla, de Winter-de Groot, Karin M., Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, Renner, Sabine, Zeyda, Max, de Wachter, Elke, Regal, Luc, Votava, Felix, Holubova, Andrea, Skov, Marianne, Morgan, Tessa, Bregeaut, Paul, O'Grady, Loretta, Bucci, Ines, Pantano, Stefano, Simonetti, Simonetta, De Venuto, Domenica, Salvatore, Donatello, Perrotti, Nicola, Caloiero, Mimma, Castaldo, Giuseppe, Tosco, Antonella, Righetti, Francesca, Pisi, Giovanna, Battistini, Fiorella, Angeloni, Antonio, Cimino, Giuseppe, Fiocchi, Giovanni, Angiolillo, Antonella, Cassanello, Michela, Alberti, Luisella, Claut, Laura E, Badolato, Raffaele, Pavanello, Enza, Fabrizzi, Benedetta, Bignamini, Elisabetta, Cardillo, Anna, Lombardo, Mariangela, Cocciadiferro, Letizia, Termini, Lisa, Dolce, Daniela, Terlizzi, Vito, Tamanini, Anna, Pauro, Francesca, la Marca, Giancarlo, Aleksejeva, Elina, Gaidule-Logina, Dita, Fustik, Stoika, Anastasovska, Violeta, Bouva, Marelle, Reid, Alastair, Cundick, Jennifer, Lundman, Emma, Bakkeheim, Egil, Zybert, Katarzyna, Oltarzewski, Mariusz, Vilarinho, Laura, Sherman, Victoria, Kondratyeva, Elena, Smith, Sarah, Dautovic, Gordana Vilotijevic, Knapkova, Maria, Mydlova, Zuzana, López, Rosa M., Velasco, Valle, Flores, Felicitas Díaz, Mejeras, Cristóbal Colón, Pedersen, Eva S.L., Ozcelik, Ugur, Karadag, Bulent, Makukh, Halyna, Stuart, Moat

مصطلحات موضوعية: CFSPID, Carriers, CFTR Gene Analysis, Cystic Fibrosis, IRT, Newborn Bloodspot Screening, PAP, Doenças Genéticas

العلاقة: https://www.sciencedirect.com/science/article/pii/S1569199322006890?via%3DihubTest; J Cyst Fibros. 2022 Nov 10;S1569-1993(22)00689-0. doi:10.1016/j.jcf.2022.09.012. Online ahead of print.; http://hdl.handle.net/10400.18/8589Test

الإتاحة: https://doi.org/10.1016/j.jcf.2022.09.012Test
http://hdl.handle.net/10400.18/8589Test

المؤلفون: Filipowicz, Dorota, Szczepanek-Parulska, Ewelina, Mikulska-Sauermann, Aniceta A., Karaźniewicz-Łada, Marta, Gł�wka, Franciszek K., Szymanowski, Krzysztof, Ołtarzewski, Mariusz, Schomburg, Lutz, Ruchała, Marek

المساهمون: Narodowe Centrum Nauki, Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu

المصدر: Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2023.1068418Test

المؤلفون: Lipska, Elżbieta, Lecka-Ambroziak, Agnieszka, Witkowski, Daniel, Szamotulska, Katarzyna, Mierzejewska, Ewa, Ołtarzewski, Mariusz

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الإتاحة: https://doi.org/10.3389/fendo.2022.895507Test

المؤلفون: Sobiczewski, Piotr, Piatek, Szymon, Michalski, Wojciech, Kupryjańczyk, Jolanta, Maciejewski, Tomasz, Ołtarzewski, Mariusz, Bidzinski, Mariusz

المصدر: European Journal of Obstetrics & Gynecology and Reproductive Biology ; volume 269, page 126-131 ; ISSN 0301-2115

الإتاحة: https://doi.org/10.1016/j.ejogrb.2021.12.029Test
https://api.elsevier.com/content/article/PII:S0301211521010368?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0301211521010368?httpAccept=text/plainTest

المؤلفون: Chełchowska, Magdalena, Gajewska, Joanna, Maciejewski, Tomasz M, Mazur, Joanna, Ołtarzewski, Mariusz, Ambroszkiewicz, Jadwiga

المصدر: Abstracts

الإتاحة: https://doi.org/10.1136/archdischild-2021-europaediatrics.132Test

المؤلفون: Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K, Carducci, Carla, Chiesa, Ana E, Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R, Eliyahu, Aviva, Evers, Roeland A F, Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E, Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I, Leuzzi, Vincenzo, Levy, Harvey L, Lichter-Konecki, Uta, Muntau, Ania C, Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V, Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C, Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K, Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F, Garbade, Sven F, Blau, Nenad

المساهمون: Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K, Carducci, Carla, Chiesa, Ana E, Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R, Eliyahu, Aviva, Evers, Roeland A F, Fajkusova, Lena, Feillet, Françoi, Bonfim-Freitas, Pedro E, Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I, Leuzzi, Vincenzo, Levy, Harvey L, Lichter-Konecki, Uta, Muntau, Ania C, Namour, Fare, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V, Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C, Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K, Vockley, Jerry, Yu, Youngguo, Zschocke, Johanne, Hoffmann, Georg F, Garbade, Sven F, Blau, Nenad

مصطلحات موضوعية: BH4, PAH deficiency, PKU, hyperphenylalaninemia, phenylalanine, tetrahydrobiopterin

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32668217; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800006; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1430100Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088865157

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.006Test
http://hdl.handle.net/11573/1430100Test