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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 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
File name Access Size Downloaded Type License Efficacy and safety of once-daily nitisinone for patients with alakaptonuria SONIA2.pdf Neprístupný/archív 5.6 MB 7 Publisher's version article
Title Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria Author Ranganath Lakshminarayan R. Co-authors Milan Anna M. Hughes Andrew T. Khedr Milad Davison Andrew S. Shweihdi Ella Norman Brendan P. Hughes Juliette H. Bygott Helen Luangrath Emily Fitzgerald Richard Psarelli Eftychia E. Kan Christa van Laan Dinny Olsson Birgitta Rudebeck Mattias Mankowitz Louise Sireau Nicholas Arnoux Jean-Baptiste Le Quan Sang Kim - Hanh Jarvis Jonathan C. Genovese Federica Braconi Daniela Santucci Annalisa Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Glasová Helena SAVBIOMED - Biomedicínske centrum SAV Stančík Roman Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Rhodes Nicholas P. Gallagher James A. Source document Journal of Inherited Metabolic Disease. Vol. 43, no. 4 (2020), pp. 737-747 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 2020 DOI 10.1002/jimd.12181 File name Access Size Downloaded Type License Homogentisic acid is not only eliminated by glomerular filtration.pdf Neprístupný/archív 1.6 MB 1 Publisher's version article
Title Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU Author Ascher David Co-authors Spiga Ottavia Sekelská Martina SAVBIOMED - Biomedicínske centrum SAV Pires Douglas E.V. Bernini Andrea Tiezzi Monica Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Olsson Birgitta Galderisi Silvia Cicaloni Vittoria Ranganath Lakshminarayan R. Santucci Annalisa Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Source document European Journal of Human Genetics. Vol. 27, no. 6 (2019), p. 888-902 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 2019 DOI 10.1038/s41431-019-0354-0 File name Access Size Downloaded Type License Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.pdf Neprístupný/archív 2 MB 0 Publisher's version article
Title A new integrated and interactive tool applicable to inborn errors of metabolism: application to alkaptonuria Author Spiga Ottavia Co-authors Cicaloni Vittoria Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Millucci Lia Bernardini Giulia Bernini Andrea Marzocchi Barbara Bianchini Monica Zugarini Andrea Rossi Alberto Zazzeri Matteo Trezza Alfonso Frediani Bruno Ranganath Lakshminarayan R. Braconi Daniela Santucci Annalisa Source document Computers in Biology and Medicine. Vol. 103 (2018), p. 1-7 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 2018 DOI 10.1016/j.compbiomed.2018.10.002 URL URL link article
Title Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project Author Braconi Daniela Co-authors Giustarini D. Marzocchi Barbara Peruzzi Lorenzo Margollicci M. Rossi R. Bernardini Giulia Millucci Lia Gallagher James A. Le Quan Sang Kim - Hanh Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Rovenský Jozef Al-Sbou M. Ranganath Lakshminarayan R. Santucci Annalisa Source document Osteoarthritis and Cartilage. Vol. 26, no. 8 (2018), p. 1078-1086 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 2018 DOI 10.1016/j.joca.2018.05.017 URL URL link article
Title ApreciseKUre: an approach of precision medicine in a rare disease Author Spiga Ottavia Co-authors Cicaloni Vittoria Bernini Andrea Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Santucci Annalisa Source document BMC Medical Informatics and Decision Making. Vol. 17, no. 1 (2017) art. no. 42 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 2017 DOI 10.1186/s12911-017-0438-0 File name Access Size Downloaded Type License ApreciseKUre an approach of precision medicine in a rare disease..pdf Neprístupný/archív 778.5 KB 2 Publisher's version article
Title Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on black bone disease in Italy Author Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Radvánszky Ján 1982- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Ascher David Pires Douglas E.V. Blundell T.L. Porfirio Berardino Mannoni Alesandro Santucci Annalisa Milucci Lia Sestini Silvia Biolcati Gianfranco Sorge Fiammetta Aurizi Caterina Aquaron R. Alsbou Mohammed S. Marques Lourenco C. Ramadevi Kanakasabapathi Ranganath Lakshminarayan R. Gallagher James A. Kan Christa van Hall Anthony K. Olsson Birgitta Sireau Nicholas Ayoob Hana Timmis Oliver G. Le Quan Sang Kim - Hanh Genovese Federica Imrich Richard Rovenský Jozef Srinivasaraghavan Rangan Bharadwaj Shruthi K. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Source document European Journal of Human Genetics. Vol. 24, no. 1 (2016), p. 66-72 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 2016 DOI 10.1038/ejhg.2015.60 File name Access Size Downloaded Type License Twelve novel HGD gene variants identified in 99 alkaptonuria patients focus on 'black bone disease' in Italy.pdf Neprístupný/archív 556.2 KB 2 Publisher's version article
Title Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment Author Ranganath Lakshminarayan R. Co-authors Milan Anna M. Hughes Andrew T. Dutton John J. Fitzgerald Richard Briggs Michael C. Bygott Helen Psarelli Eftychia E. Cox Trevor F. Gallagher James A. Jarvis Jonathan C. Kan Christa van Hall Anthony K. Laan Dinny Olsson Birgitta Szamosi Johan Rudebeck Mattias Kullenberg Torbjorn Cronlund Arvid Svensson Lennart Junestrand Carin Ayoob Hana Timmis Oliver G. Sireau Nicholas Le Quan Sang Kim - Hanh Genovese Federica Braconi Daniela Santucci Annalisa Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV McCaffrey Judith Christensen Peter Ross Gordon Imrich Richard SAVUKTRA - Ústav klinického a translačného výskumu BMC SAV Rovenský Jozef Source document Annals of the Rheumatic Diseases. Vol. 75, iss. 2 (2016), pp. 362-367 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 2016 DOI 10.1136/annrheumdis-2014-206033 File name Access Size Downloaded Type License Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone.pdf Neprístupný/archív 535.9 KB 4 Publisher's version article