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1دورية أكاديمية
المؤلفون: Bayat, Allan, Lindau, Tobias, Aledo-Serrano, Angel, Gil-Nagel, Antonio, Barić, Ivo, Bartoniček, Dorotea, Mateševac, Josipa, Ramadža, Danijela Petković, Žigman, Tamara, Pušeljić, Silvija, Dorner, Sanja, Bupp, Caleb, Devries, Seth, Møller, Rikke Steensbjerre
المصدر: Bayat , A , Lindau , T , Aledo-Serrano , A , Gil-Nagel , A , Barić , I , Bartoniček , D , Mateševac , J , Ramadža , D P , Žigman , T , Pušeljić , S , Dorner , S , Bupp , C , Devries , S & Møller , R S 2023 , ' GPI-anchoring disorders and the heart : Is cardiomyopathy an overlooked feature? ' , Clinical Genetics , vol. 104 , no. 5 , pp. 598-603 . https://doi.org/10.1111/cge.14405Test
مصطلحات موضوعية: cardiomyopathy, genetics, glycosylphosphatidylinositol biosynthesis defects, GPI, GPIAD, heart, mortality, PIGA, Humans, Adult, Brain Diseases, Cardiomyopathies/diagnosis, Glycosylphosphatidylinositols/genetics, Child
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/29328f4a-a15d-4f29-9578-593ac7de3ddbTest
الإتاحة: https://doi.org/10.1111/cge.14405Test
https://portal.findresearcher.sdu.dk/da/publications/29328f4a-a15d-4f29-9578-593ac7de3ddbTest
https://findresearcher.sdu.dk/ws/files/242098630/Open_Access_Version.pdfTest -
2دورية أكاديمية
المؤلفون: Šmaguc, Ana, Ramadža, Danijela Petković, Sarnavka, Vladimir, Krželj, Vjekoslav, Lozić, Bernarda, Pušeljić, Silvija, Rahelić, Valentina, Mesarić, Nikola, Grubić, Marina, Bogdanić, Ana, Uroić, Anita Špehar, Žigman, Tamara, Grizelj, Ruža, Vuković, Jurica, Mardešić, Duško, Szatmari, Ildiko, Rivera, Isabel, Fumić, Ksenija, Barić, Ivo
المصدر: Liječnički vjesnik ; ISSN 0024-3477 (Print) ; ISSN 1849-2177 (Online) ; Volume 145 ; Issue 1-2
مصطلحات موضوعية: Deskriptori GALAKTOZEMIJA – dijagnoza, genetika, komplikacije, GALAKTOZA – u krvi, GALAKTOZA-1-FOSFAT URIDIL TRANSFERAZA – genetika, nedostatak, URIDIN DIFOSFAT GALAKTOZA 4-EPIMERAZA – genetika, GALAKTOKINAZA – genetika, MUTACIJA, FENOTIP, NOVOROĐENAČKI PROBIR, HRVATSKA, GALACTOSEMIAS – complications, diagnosis, genetics, GALACTOSE – blood, UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE – deficiency, UDP GLUCOSE 4-EPIMERASE – deficiency, GALACTOKINASE – deficiency, MUTATION, PHENOTYPE, NEONATAL SCREENING, CROATIA
وصف الملف: application/pdf
العلاقة: https://hrcak.srce.hr/294579Test
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3مؤتمر
المؤلفون: Pušeljić, Silvija
المصدر: Paediatria Croatica ; ISSN 1330-1403 (Print) ; ISSN 1846-405X (Online) ; Volume 66 ; Issue suppl 1
وصف الملف: application/pdf
العلاقة: https://hrcak.srce.hr/295462Test
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4دورية أكاديمية
المؤلفون: Sansović, Ivona, Meašić, Ana-Maria, Bobinec, Adriana, Morožin Pohovski, Leona, Odak, Ljubica, Vulin, Katarina, Lozić, Bernarda, Kero, Mijana, Huljev Frković, Sanda, Pušeljić, Silvija
المصدر: Croat Med J ; ISSN:1332-8166 ; Volume:65 ; Issue:3
العلاقة: https://pubmed.ncbi.nlm.nih.gov/38868966Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157262Test/
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5مؤتمر
المؤلفون: Meašić, Ana-Maria, Bobinec, Adriana, Sansović, Ivona, Boban, Ljubica, Pavić, Ana Močić, Pušeljić, Silvija, Barišić, Ingeborg
المصدر: Abstracts
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6مؤتمر
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7مؤتمر
المؤلفون: Varga, Mateja Batnozic, Sestan, Mario, Wagner, Jasenka, Crkvenac, Kristina, Kifer, Nastasia, Frkovic, Marijan, Stefinovec, Laura, Grguric, Danica, Puseljic, Silvija, Jelusic, Marija
المصدر: Abstracts
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8مؤتمر
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9دورية أكاديمية
العنوان البديل: Epilepsies and epileptic encephalopathies due to inborn errors of metabolism. (English)
المؤلفون: Pušeljić, Nora, Pušeljić, Silvija, Poznić, Ema, Perić, Luka, Pušeljić, Nika, Tomac, Višnja
المصدر: Lijecnicki Vjesnik; 2024 Supplement, Vol. 146, p169-173, 5p
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10دورية أكاديمية
العنوان البديل: Autism spectrum disorder – what are the relations with inherited metabolic diseases? (English)
المؤلفون: Pušeljić, Silvija, Pušeljić, Nora, Poznić, Ema, Tomac, Višnja, Perić, Luka
المصدر: Lijecnicki Vjesnik; 2024 Supplement, Vol. 146, p147-151, 5p
