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Kožich, Viktor [Author]; Sokolová, Jitka [Author]; Morris, Andrew A. M. [Author]; Pavlíková, Markéta [Author]; Gleich, Florian [Author]; Kölker, Stefan [Author]; Krijt, Jakub [Author]; Dionisi-Vici, Carlo [Author]; Baumgartner, Matthias R. [Author]; Blom, Henk J. [Author]; Huemer, Martina [Author]

Cystathionine β-synthase deficiency in the E-HOD registry-part I : pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

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2021

Published in: Journal of inherited metabolic disease ; 44(2021), 3, Seite 677-692
Opladen, Thomas [Author]; Gleich, Florian [Author]; Kozich, Viktor [Author]; Scarpa, Maurizio [Author]; Martinelli, Diego [Author]; Schaefer, Franz [Author]; Jeltsch, Kathrin [Author]; Juliá-Palacios, Natalia [Author]; García-Cazorla, Ángels [Author]; Dionisi-Vici, Carlo [Author]; Kölker, Stefan [Author]

U-IMD : the first Unified European registry for inherited metabolic diseases

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18 February 2021

Published in: Orphanet journal of rare diseases ; 16(2021), Artikel-ID 95, Seite 1-10
Ivan Šebesta [Author]; David Zeman [Author]; Milan Dastych [Author]; Viktor Kožich [Author]; Vladimír Soška [Author]; Milan Dastych jr [Author]; Radka Šigutová [Author]; Eva Táborská [Author]; Milan Jirsa [Author]; Daniel Rajdl [Author]; Václav Senf [Author]; Věra Ploticová [Author]; Tomáš Franěk [Author]; Richard Průša [Author]; Alena Krnáčová [Author]; Jiří Zadina [Author]; Vladimír Bartoš [Author]; Marta Kalousová [Author]; Libor Vítek [Author]; Tomáš Karlík [Author]; Pavlína Kušnierová [Author]; Kristian Šafarčík [Author]; Petr Kocna [Author]; Michaela Králíková [Author]; [...]

Clinical Biochemistry

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[Erscheinungsort nicht ermittelbar]: Karolinum Press, 2016
Loeber, J. Gerard [Author]; Platis, Dimitris [Author]; Zetterström, Rolf H. [Author]; Almashanu, Shlomo [Author]; Boemer, François [Author]; Bonham, James R. [Author]; Borde, Patricia [Author]; Brincat, Ian [Author]; Cheillan, David [Author]; Dekkers, Eugenie [Author]; Dimitrov, Dobry [Author]; Fingerhut, Ralph [Author]; Franzson, Leifur [Author]; Groselj, Urh [Author]; Hougaard, David [Author]; Knapkova, Maria [Author]; Kocova, Mirjana [Author]; Kotori, Vjosa [Author]; Kozich, Viktor [Author]; Kremezna, Anastasiia [Author]; Kurkijärvi, Riikka [Author]; La Marca, Giancarlo [Author]; Mikelsaar, Ruth [Author]; Milenkovic, Tatjana [Author]; [...]

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

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Basel: MDPI, [2023]

Published in: International journal of neonatal screening ; 7,1, (2021)
Kožich, Viktor; Majtan, Tomas

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

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Wiley, 2024

Published in: Journal of Inherited Metabolic Disease (2024)
Kožich, Viktor; Majtan, Tomas

Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

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Ovid Technologies (Wolters Kluwer Health), 2021

Published in: Current Opinion in Clinical Nutrition & Metabolic Care, 24 (2021) 1, Seite 62-70
Fowler, Brian; Kožich, Viktor

Jan Kraus PhD., Professor of Pediatrics at the University of Colorado Anschutz Medical Campus, Aurora, CO, USA (b London, UK, June 5, 1942; q 1965 Faculty of Science Prague, d July 4, 2019, CO, USA)

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Wiley, 2020

Published in: Journal of Inherited Metabolic Disease, 43 (2020) 2, Seite 379-380
Kožich, Viktor; Majtan, Tomas

A key leader in homocystinuria research: Jan P. Kraus (1942–2019)

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Hindawi Limited, 2019

Published in: Human Mutation, 40 (2019) 11, Seite 1909-1909
Kožich, Viktor; Stabler, Sally

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism

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Elsevier BV, 2020

Published in: The Journal of Nutrition, 150 (2020), Seite 2506S-2517S
Kozich, Viktor; Besley, Guy

Preface

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Wiley, 2002

Published in: Journal of Inherited Metabolic Disease, 25 (2002) 3, Seite 137-138
Kožich, Viktor; Kraus, Jan P.

Screening for mutations by expressing patient cDNA segments inE. coli: Homocystinuria due to cystathionine β-synthase deficiency

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Hindawi Limited, 1992

Published in: Human Mutation, 1 (1992) 2, Seite 113-123
Majtan, Tomas; Kožich, Viktor; Kruger, Warren D.

Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria

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Wiley, 2023

Published in: British Journal of Pharmacology, 180 (2023) 3, Seite 264-278
Fowler, Brian; Blom, Henk J.; Kožich, Viktor

Foreword to special issue on homocysteine disorders

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Wiley, 2011

Published in: Journal of Inherited Metabolic Disease, 34 (2011) 1, Seite 1-2
Krijt, Jakub; Dutá, Alena; Kožich, Viktor

Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC–MS/MS and evaluation of their stability in mice tissues

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Elsevier BV, 2009

Published in: Journal of Chromatography B, 877 (2009) 22, Seite 2061-2066
Janošíková, Bohumila; Zavadáková, Petra; Kožich, Viktor

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?

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Springer Science and Business Media LLC, 2005

Published in: European Journal of Human Genetics, 13 (2005) 1, Seite 86-95
Krijt, Jakub; Vacková, Martina; Kožich, Viktor

Measurement of Homocysteine and Other Aminothiols in Plasma: Advantages of Using Tris(2-carboxyethyl)phosphine as Reductant Compared with Tri-n-butylphosphine

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Oxford University Press (OUP), 2001

Published in: Clinical Chemistry, 47 (2001) 10, Seite 1821-1828
Honzík, Tomáš; Kožich, Viktor; Pešková, Karolína; Votava, Felix

Laboratory newborn screening

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Galen, spol. s r.o., 2022

Published in: Česko-slovenská pediatrie, 77 (2022) 1, Seite 12-18
Stibůrková, Blanka; Pavlíková, Markéta; Sokolová, Jitka; Kožich, Viktor

Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration

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Public Library of Science (PLoS), 2014

Published in: PLoS ONE, 9 (2014) 5, Seite e97646
Hnízda, Aleš; Jurga, Vojtěch; Raková, Kateřina; Kožich, Viktor

Cystathionine beta‐synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts

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Wiley, 2012

Published in: Journal of Inherited Metabolic Disease, 35 (2012) 3, Seite 469-477
Elshorbagy, Amany K.; Smith, A. David; Kozich, Viktor; Refsum, Helga

Cysteine and Obesity

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Wiley, 2012

Published in: Obesity, 20 (2012) 3, Seite 473-481

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