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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 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 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 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
Title Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone Author Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Co-authors Sedláková Jana Úlehlová Mária Gornall M. Jackson R. Olsson Birgitta Rudebeck Mattias Gallagher James A. Lukáčová Oľga Mlynáriková Vanda Stančík Roman Vrtíková Eva Záňová Elizabeth Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Arnoux Jean-Baptiste Rovenský Jozef Luangrath Emily Bygott Helen Khedr Milad Ranganath Lakshminarayan R. Source document RMD Open. Vol. 8, no. 2(2022), e002422 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 10.1136/rmdopen-2022-002422 File name Access Size Downloaded Type License Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.pdf available 1.6 MB 1 Publisher's version article
Title Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling Author Ranganath Lakshminarayan R. Co-authors Milan Anna M. Hughes Andrew T. Khedr Milad Norman Brendan P. Alsbou Mohammed S. Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Gornall M. Sireau Nicholas Gallagher James A. Jackson R. Source document JIMD Reports. Vol. 63, no. 1 (2021), p. 80-92. - Germany : Springer Berlin 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/jmd2.12261 URL URL link File name Access Size Downloaded Type License Comparing nitisinone 2 mg and 10 mg in the treatment.pdf available 2.6 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