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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 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 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 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 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 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 Title Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria Author Olsson Birgitta Co-authors Ranganath Lakshminarayan R. Arnoux Jean-Baptiste Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Milan Anna M. Rudebeck Mattias Source document JIMD Reports. Vol. 63, no. 1 (2021), pp. 41-49 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/jmd2.12255 URL URL link File name Access Size Downloaded Type License Effects of a protein-restricted diet on body weight and.pdf available 1.1 MB 1 Publisher's version 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 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 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