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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 
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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
Title 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 article