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Title Alkaptonuria Author Bernardini Giulia Co-authors Braconi Daniela Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Sireau Nick Kujawa Mariusz J. Introne Wendy J. Spiga Ottavia Geminiani Michela Gallagher James A. Ranganath Lakshminarayan R. Santucci Annalisa Source document Nature Reviews Disease Primers. Vol. 10 (2024), art. no. 16 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2024 DOI 10.1038/s41572-024-00498-x URL URL link File name Access Size Downloaded Type License Alkaptonuria.pdf available 2.4 MB 6 Publisher's version 
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Title Nutritional interventions for patients with alkaptonuria: A minireview Author Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Co-authors Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Lukáčová Oľga Sedláková Jana Záňová Elizabeth Vlček Miroslav Penesová Adela SAVBIOMED - Biomedicínske centrum SAV Rádiková Žofia SAVBIOMED - Biomedicínske centrum SAV Havranová Andrea 1972 SAVBIOMED - Biomedicínske centrum SAV Ranganath Lakshminarayan R. Source document Endocrine Regulations. Vol. 57, no. 1 (2023), p. 61-67 Category ADNB - Scientific papers in domestic non-impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2023 DOI 10.2478/enr-2023-0008 URL URL link File name Access Size Downloaded Type License Nutritional interventions for patients with alkaptonuria A minireview.pdf available 821.3 KB 2 Publisher's version article
Title APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease Author Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Co-authors Khedr Milad Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Penesová Adela SAVBIOMED - Biomedicínske centrum SAV Hekel R. Szemes Tomáš Ranganath Lakshminarayan R. Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Source document Bratislava Medical Journal. Roč. 124, č. 5 (2023), s. 351-355 Category ADNA - Scientific papers in domestic impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2023 DOI 10.4149/BLL_2023_053 URL URL link File name Access Size Downloaded Type License APOC3 and ABCA1 variants in unusual combinedhypolipidaemia showing premature peripheral vascular disease.pdf available 38.8 KB 3 Publisher's version article
Title Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria Author Ranganath Lakshminarayan R. Co-authors Milan Anna M. Hughes Andrew T. Davison Andrew S. Khedr Milad Norman Brendan P. Bou-Gharios G. Gallagher James A. Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Arnoux Jean-Baptiste Rudebeck Mattias Olsson Birgitta Source document Scientific Reports. Vol. 12, no. 1 (2022), art. no. 16083 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.1038/s41598-022-20424-z URL URL link File name Access Size Downloaded Type License Determinants of tyrosinaemia.pdf available 1.2 MB 1 Publisher's version article
Title Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment Author Ranganath Lakshminarayan R. Co-authors Milan Anna M. Hughes Andrew T. Davison Andrew S. Khedr Milad Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Rudebeck Mattias Olsson Birgitta Norman Brendan P. Bou-Gharios G. Gallagher James A. Source document Metabolites. Vol. 12, no. 8(2022), art. no. 772 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.3390/metabo12080772 URL URL link File name Access Size Downloaded Type License Comparing the Phenylalanine-Tyrosine Pathway and Related.pdf available 1.4 MB 1 Publisher's version article
Title Analysis of the Phenotype Differences in Siblings with Alkaptonuria Author Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Co-authors Olsson Birgitta Ranganath Lakshminarayan R. Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Source document Metabolites. Vol. 12, no. 10 (2022), art. no. 990 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.3390/metabo12100990 URL URL link File name Access Size Downloaded Type License Analysis of the Phenotype Differences in Siblings withAlkaptonuria.pdf available 1.2 MB 1 Publisher's version article
Title Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria Author Ranganath Lakshminarayan R. Co-authors Milan Anna M. Hughes Andrew T. Davison Andrew S. Khedr Milad Norman Brendan P. Bou-Gharios G. Gallagher James A. Gornall M. Jackson R. Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Rovenský Jozef Rudebeck Mattias Olsson Birgitta Source document Molecular Genetics and Metabolism Reports. Vol. 30, no. 1 (2022), art. no. 100846 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok DOI 10.1016/j.ymgmr.2022.100846 URL URL link File name Access Size Downloaded Type License Characterization of changes in the tyrosine pathway by 24-h profiling.pdf available 758.2 KB 1 Publisher's version article
Title Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index Author Cant Harriet E. O. Co-authors Chatzidaki Iro Olsson Birgitta Rudebeck Mattias Arnoux Jean-Baptiste Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Eddowes Lucy A. Ranganath Lakshminarayan R. Source document JIMD Reports. Vol. 63, no. 4 (2022), p. 361-370 Category ADMB - Scientific papers in foreign non-impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.1002/jmd2.12290 URL URL link File name Access Size Downloaded Type License Improving the clinical accuracy and flexibility.pdf available 1.6 MB 1 Publisher's version article
Title Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies Author Braconi Daniela Co-authors Geminiani Michela Psarelli Eftychia E. Giustarini D. Marzocchi Barbara Rossi R. Bernardini Giulia Spiga Ottavia Gallagher James A. Le Quan Sang Kim - Hanh Arnoux Jean-Baptiste Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Al-Sbou M. Gornall M. Jackson R. Ranganath Lakshminarayan R. Santucci Annalisa Source document Cells. Vol. 11, no. 22 (2022), art. no. 3668 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.3390/cells11223668 URL URL link File name Access Size Downloaded Type License Effects of Nitisinone on Oxidative and Inflammatory Markers.pdf available 1.7 MB 1 Publisher's version article
Title Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria Author Ranganath Lakshminarayan R. Co-authors Hughes Andrew T. Davison Andrew S. Khedr Milad Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Rudebeck Mattias Olsson Birgitta Norman Brendan P. Bou-Gharios G. Gallagher James A. Milan Anna M. Source document Metabolites. Vol. 12, no. 10 (2022), art. no. 920 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.3390/metabo12100920 URL URL link File name Access Size Downloaded Type License Revisiting Quantification of Phenylalanine Tyrosine Flux in the.pdf available 5.3 MB 1 Publisher's version article