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Title 10 novel HGD mutations identified in black bone disease patients Author Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Radvánszky Ján 1982- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Aquaron R. Porfirio Berardino Santucci L.A. Sestini Silvia Biolcati Gianfranco Sorge Fiammetta Aurizi Caterina Marques Lourenco C. Ramadevi Kanakasabapathi Ranganath Lakshminarayan R. Rovenský Jozef Imrich Richard Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Source document European Journal of Human Genetics. Vol. 22, Supplement 1 (2014), p. 127 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 Penetration of host cells by Rickettsia rickettsii appears to be mediated by a phospholipase of rickettsial origin Author Silverman D.J. Co-authors Santucci L.A. Meyers N. Sekeyová Zuzana 1957 SAVVIR - Virologický ústav SAV Source document Infection and Immunity. Vol. 60, no. 7 (1992), p. 2733 - 2740 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 1992