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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 
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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 article
Title Analysis of the Phenotype Differences in Siblings with Alkaptonuria Author Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Co-authors Olsson Birgitta Ranganath Lakshminarayan R. Imrich Richard SAVBIOMED - Biomedicínske centrum SAV Source document Metabolites. Vol. 12, no. 10 (2022), art. no. 990 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/metabo12100990 URL URL link File name Access Size Downloaded Type License Analysis of the Phenotype Differences in Siblings withAlkaptonuria.pdf available 1.2 MB 1 Publisher's version article
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 article
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 article
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 article
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 article
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 article
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 article
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 article