Autori: Perez Belen
Naslov | Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model (Article) |
Autori | Klaassen Kristel M Djordjevic Maja S Skakic Anita G Desviat Lourdes R Pavlovic Sonja T Perez Belen Stojiljkovic Maja M |
Info | BIOCHEMICAL GENETICS, (2018), vol. 56 br. 5, str. 533-541 |
Projekat | Ministry of Education, Science and Technological Development, Serbia [III41004, 451-03-02635/2011-14/14]; European Commission [EU-FP7-REGPOT-316088]; Ministry of Economy and Competitiveness, Spain [PRIAIBSE-2011-1126] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias (Article) |
Autori | Stojiljkovic Maja M Klaassen Kristel M Djordjevic Maja S Sarajlija Adrijan Brasil S Kecman Bozica Grkovic Sanja Kostic Jelena Rodriguez-Pombo P Desviat Lourdes R Pavlovic Sonja T Perez Belen |
Info | CLINICAL GENETICS, (2016), vol. 90 br. 3, str. 252-257 |
Projekat | Ministry of Education, Science and Technological Development, Serbia [III 41004]; European Commission [EU-FP7-REGPOT-316088]; Ministry of Economy and Competitiveness, Spain [PI13/01239]; Spanish-Serbian cooperation project - Ministry of Economy and Compet |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia (Article) |
Autori | Stojiljkovic Maja M Klaassen Kristel M Djordjevic Maja S Sarajlija Adrijan Kecman Bozica Ugrin Milena M Zukic Branka Desviat Lourdes R Pavlovic Sonja T Perez Belen |
Info | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, (2015), vol. 28 br. 3-4, str. 477-480 |
Projekat | Ministry of Education, Science and Technological Development, Republic of Serbia [III 41004]; Ministry of Economy and Competitiveness, Spain [PRI-AIBSE-2011-1126]; Ministry of Education, Science, and Technological Development, Republic of Serbia [451-03-0 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro (Article) |
Autori | Stojiljkovic Maja M Perez Belen Desviat Lourdes R Aguado Cristina Ugarte Magdalena Pavlovic Sonja T |
Info | PROTEIN JOURNAL, (2009), vol. 28 br. 6, str. 294-299 |
Projekat | Ministry of Science, Republic of Serbia [143051]; Boehringer Ingelheim Fondation |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Functional analysis and phenotypic outcome of S231F mutation in phenylalanine hydroxylase gene (Meeting Abstract) |
Autori | Stojijkovic M Perez Belen Desviat Lourdes R Aguado Cristina Ugarte Magdalena Pavlovic S |
Info | JOURNAL OF INHERITED METABOLIC DISEASE, (2008), vol. 31 br. , Suppl. Suppl. 1, str. 76-76 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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