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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 Boltižiar Martin 1974 - SAVKREKO - Ústav krajinnej ekológie SAVDavid Stanislav 1953 - SAVKREKO - Ústav krajinnej ekológie SAVGajdoš Peter 1957 SAVKREKO - Ústav krajinnej ekológie SAVGrotkovská Lucia SAVKREKO - Ústav krajinnej ekológie SAVHalabuk Andrej 1976 - SAVKREKO - Ústav krajinnej ekológie SAVHalada Ľuboš 1961 SAVKREKO - Ústav krajinnej ekológie SAVHreško Juraj 1957 SAVKREKO - Ústav krajinnej ekológie SAVKalivodová Eva 1939 SAVKREKO - Ústav krajinnej ekológie SAVTitle Suitability of nitisinone in Alkaptonuria - a dose response study 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 Imrich Richard Rovenský Jozef Source document Journal of Inherited Metabolic Disease. Vol. 37, (2014) Supplement 1, S27 Category AEGA - Abstracts of scientific papers published in foreign impacted journals registered in Current Contents Connect Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2014 Title Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1 ): Results of a dose-response study of once daily nitisinone on 24-hour urinary homogentisic acid secretion (u-HGA24) in patients with alkaptonuria Author Hall Anthony K. Co-authors Ranganath Lakshminarayan R. Olsson Birgitta Szamosi Johan Psarelli Eftychia E. Gallagher James A. Jarvis Jonathan C. Kan Christa van Sireau Nicholas Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Genovese Federica Braconi Daniela Santucci L.A. Imrich Richard SAVMOMEC - Molekulárno-medicínske centrum Rovenský Jozef Source document The 7th European Conference on Rare Diseases and Orphan Products : (ECRD 2014 Berlin) 8-10 May, 2014. P.. - Berlin, 2014 ; The 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014 Berlin) Category AFG - Abstracts of papers from foreign conferences Year 2014 Title Homogentisate 1,2-dioxygenase (HGD) gene variants causing alkaptonuria (AKU) in different countries and increased mutation frequency in a specific region of Slovakia Author Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Radvánszky Ján 1982- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Gallagher James A. Jarvis Jonathan C. Ranganath Lakshminarayan R. Usher Jeannette L. Alsbou Mohammed S. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Source document Genomic Disorders 2011: The Genomics of Rare Diseases : 23-26 March 2011. P. 11. - Cambridge, 2011 ; Genomic Disorders 2011: The Genomics of Rare Diseases Category AFG - Abstracts of papers from foreign conferences Year 2011