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Title Analysis of the phenotype differences in sibs with alkaptonuria Author Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Co-authors Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Glasová Helena Olsson Birgitta Alsbou Mohammed S. Ranganath Lakshminarayan R. Action The European Human Genetics Conference 2021 Virtual Conference : August 28-31, 2021 Source document European Journal of Human Genetics. Vol. 20, suppl. 1 (2021), P06.001.B. Poster Section. 06. Metabolic and mitochondrial disorders. Control/tracking number: 2021-A-1445-ESHG Category AFG - Abstracts of papers from foreign conferences Year 2021 
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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
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 article
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 Hrubec Marek Klátiková Elena Chalčaková Silvia article