1983
Hyánek, J., Zapadlo, M., Zeman, J., Houšťková, H., Rubin, A., Duran, M., Wadman, S. K., Pětová, J., Písačka, M. and Kožich, V. Izovalerová acidurie. Čas Lék Česk, 1983, vol. 122, no. 35, 1082-1084

zpět

1988
Zeman, L., Zeman, J., Kožich, V. and Bezdičková, V. Skrínink oligosacharidů v moči kojenců a batolat. Česk Pediatr, 1988, vol. 43, no. 10, 590-593

zpět

1989
Hainer, V., Kunešová, M., Štich, V., Pařízková, J., Žák, A., Wernischová, V., Kožich, V., Hrabák, P. and Dědicová, L. Very low energy formula diet in the treatment of obesity. Int J Obes, 1989, vol. 13 Suppl 2, no. 185-188

zpět

1990
Klanová, M., Kožich, V. and Pehal, F. Kasuistika klinicko-biochemické diagnózy peroxisomálního onemocnění typu syndromu Zellwegerova. Česk Pediatr, 1990, vol. 45, no. 1, 50-51

Hyánek, J., Kožich, V. and Pehal, F. Peroxisomální poruchy - je možná diagnostika i u nás? Česk Pediatr, 1990, vol. 45, no. 1, 51-52

Kunešová, M., Hainer, V., Štich, V., Žák, A., Hrabák, P., Kožich, V. and Krupička, J. Nízkoenergetická bílkovinná dieta - vliv na metabolismus lipidů a bílkovin. Vnitř Lék, 1990, vol. 36, no. 5, 417-425

Zeman, J., Kožich, V., Šťastná, S., Hyánek, J., Hoza, J., Rajecký, J., Verner, P. and Pehal, F. Neketotická hyperglycinemie. Česk Pediatr, 1990, vol. 45, no. 11, 671-672

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1991
Monografie:

Kožich, V. and Verner, P. Dědičné poruchy metabolismu organických kyselin. In Hyánek, J. a spol. Dědičné metabolické poruchy: základní biochemické, klinické a genetické aspekty. Praha: Avicenum, 1991. s. 104-125

Zeman, J., Kožich, V. and Elleder, M. Dědičné poruchy metabolismu peroxisomů. In Hyánek, J. a spol. Dědičné metabolické poruchy: základní biochemické, klinické a genetické aspekty. Praha: Avicenum, 1991. s. 230-234

Kožich, V. Diagnostika a léčba akutních dědičných poruch metabolismu. In Hyánek, J. a spol. Dědičné metabolické poruchy: základní biochemické, klinické a genetické aspekty. Praha: Avicenum, 1991. s. 296-303

Kožich, V. Intermitentně probíhající dědičné poruchy metabolismu. In Hyánek, J. a spol. Dědičné metabolické poruchy: základní biochemické, klinické a genetické aspekty. Praha: Avicenum, 1991. s. 304

Periodika

Kožich, V*., Gibson, K. M., Zeman, J., Němeček, J., Hoffman, G. F., Pehal, F., Hyánek, J., Grosmanová, A. and Verner, P. Mevalonic aciduria. J Inherit Metab Dis, 1991, vol. 14, no. 2, 265-266

Wanders, R. J., van Roermund, C. W., Schelen, A., Schutgens, R. B., Zeman, J., Kožich, V., Hyánek, J., Casteels, M. and Mannaerts, G. P. Di- and trihydroxycholestanaemia in twin sisters. J Inherit Metab Dis, 1991, vol. 14, no. 3, 357-360

Zeman, L., Zeman, J., Kožich, V., Matoušová, M. and Velíšková, J. Fosfoethanolamin v krvi a moči nemocných dětí. Česk Pediatr, 1991, vol. 46, no. 1, 19-22

Hoffmann, G. F., Sweetman, L., Bremer, H. J., Hunneman, D. H., Hyánek, J., Kožich, V., Lehnert, W., Nyhan, W. L., Speidel, I. and Trefz, F. K. Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta, 1991, vol. 198, no. 3, 209-227

Wanders, R. J., Casteels, M., Mannaerts, G. P., van Roermund, C. W., Schutgens, R. B., Kožich, V., Zeman, J. and Hyánek, J. Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients. Clin Chim Acta, 1991, vol. 202, no. 3, 123-132

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1992
Monografie:

Kožich, V. Dědičné poruchy metabolismu v terénní praxi. In Kapras, J. a kol. Pokroky v lékařské genetice. Praha: Zdravotnické aktuality, 1992. s. 58-76

Periodika

Kraus, J. P. and Kožich, V. Pyridoxine responsive and unresponsive homocystinuria. J Nutr Sci Vitaminol (Tokyo), 1992, vol. Spec No, no. 589-592

Kožich, V. and Kraus, J. P. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat, 1992, vol. 1, no. 2, 113-123

Hřebíček, M., Zeman, J., Petrák, B., Kožich, V., Hyánek, J., Ruiter, J. P., Wanders, R. J. and Wijburg, F. A. Unusual clinical presentation in two boys with cytochrome c oxidase deficiency. J Inherit Metab Dis, 1992, vol. 15, no. 3, 320-322

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1993
Kožich, V., de Franchis, R. and Kraus, J. P. Molecular defect in a patient with pyridoxine-responsive homocystinuria. Hum Mol Genet, 1993, vol. 2, no. 6, 815-816

Gabrielli, C., Kožich, V., Filipec, M., Pezzulli, S., Moramarco, A., Feher, J. and Hoskovcová, H. Preliminary study of glycosaminoglycan metabolism in high myopia. Ital J Ophth, 1993, vol. VII, no. 87-89

Kraus, J. P., Le, K., Swaroop, M., Ohura, T., Tahara, T., Rosenberg, L. E., Roper, M. D. and Kožich, V. Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells. Hum Mol Genet, 1993, vol. 2, no. 10, 1633-1638

Hu, F. L., Gu, Z., Kožich, V., Kraus, J. P., Ramesh, V. and Shih, V. E. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet, 1993, vol. 2, no. 11, 1857-1860

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1994
Martanová, H., Marková, D., Votruba, V., Kožich, V., Paulová, M. and Zeman, J. Acute neonatal form of methylmalonic aciduria. Čs Pediatrie, 1994, vol. 49, no. 355-356

de Franchis, R., Kožich, V., McInnes, R. R. and Kraus, J. P. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Hum Mol Genet, 1994, vol. 3, no. 7, 1103-1108

Poupětová, H., Ledvinová, J., Krijt, J., Hádek, Z., Chudoba, P., Macek, M., Kožich, V. and Elleder, M. First experience with prenatal diagnosis of inherited enzymopathies in the Czech Republic. Cs Pediatrie, 1994, vol. 52, no. 577-579

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1995
Kožich, V., Kraus, E., de Franchis, R., Fowler, B., Boers, G. H., Graham, I. and Kraus, J. P. Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level. Hum Mol Genet, 1995, vol. 4, no. 4, 623-629

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1996
Hyánek, J., Bendl, J., Zeman, J., Soukup, K., Doležal, A., Kožich, V., Št'astná, S., Kubík, M. and Viletová, H. Mateřské hyperfenylalaninemie v české populaci zdravých těhotných žen. Čas Lék Česk, 1996, vol. 135, no. 2, 50-53

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1997
Kožich, V*., Janošík, M., Sokolová, J., Oliveriusová, J., Orendáč, M., Kraus, J. P. and Elleder, D. Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. J Inherit Metab Dis, 1997, vol. 20, no. 3, 363-366

Hyánek, J., Stříbrný, J., Šebesta, P., Niederle, P., Kramář, J., Kožich, V., Orendáč, O., Zayková, K., Mandysová, E., Borůvka, V., Dvořáková, J., Táborský, L., Loučka, M., Dubská, L., Martiníková, V., Macháčková, L. and Cabrnochová, I. Hyperhomocysteinémie. Rizikový faktor pro vznik cévních onemocnění nezávislý na hladinách lipidů. Čas Lék Česk, 1997, vol. 136, no. 23, 720-723

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1998
Elleder, M., Poupětová, H. and Kožich, V. Fetální patologie Fabryho nemoci a mukopolysacharidózy I. Česk Patol, 1998, vol. 34, no. 1, 7-12

Gibson, K. M., Sweetman, L., Kožich, V., Pijáčková, A., Tscharre, A., Cortez, A., Eyskens, F., Jakobs, C., Duran, M. and Poll-The, B. T. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). J Inherit Metab Dis, 1998, vol. 21, no. 3, 255-261

Kraus, J. P., Oliveriusová, J., Sokolová, J., Kraus, E., Vlček, C., de Franchis, R., Maclean, K. N., Bao, L., Bukovská, G., Patterson, D., Pačes, V., Ansorge, W. and Kožich, V*. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics, 1998, vol. 52, no. 3, 312-324

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1999
Kraus, J. P., Janošík, M., Kožich, V., Mandell, R., Shih, V., Sperandeo, M. P., Sebastio, G., de Franchis, R., Andria, G., Kluijtmans, L. A., Blom, H., Boers, G. H., Gordon, R. B., Kamoun, P., Tsai, M. Y., Kruger, W. D., Koch, H. G., Ohura, T. and Gaustadnes, M. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat, 1999, vol. 13, no. 5, 362-375

Orendáč, M., Mušková, B., Richterová, E., Zvárová, J., Štefek, M., Zayková, E., Kraus, J. P., Stříbrný, J., Hyánek, J. and Kožich, V*. Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? J Inherit Metab Dis, 1999, vol. 22, no. 5, 674-675

de Franchis, R., Kraus, E., Kožich, V., Sebastio, G. and Kraus, J. P. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat, 1999, vol. 13, no. 6, 453-457

Hinson, D. D., Ross, R. M., Krisans, S., Shaw, J. L., Kožich, V., Rolland, M. O., Divry, P., Mancini, J., Hoffmann, G. F. and Gibson, K. M. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet, 1999, vol. 65, no. 2, 327-335

Kožich, V*., Hyánek, J. and Kraus, J. P. Homocysteine, genes and vitamins: association with cardiovascular disease and pregnancy complications. DMEV, 1999, vol. 3, no. 113-120

Hyánek, J., Stříbrný, J., Šebesta, P., Klika, M., Kramář, J., Kožich, V., Martiníková, V., Macháčková, L., Orendáč, M., Loučka, M., Dubská, L., Pejznochová, H., Táborský, L. and Cabrnochová, I. Diagnostický význam mírné hyperhomocysteinémie v populaci dětí narozených z rodičů či prarodičů trpících onemocněním periferních či koronárních tepen. Čas Lék Česk, 1999, vol. 138, no. 11, 333-336

Svatoš, J., Orendáč, M., Mušková, B., Hyánek, J., Kožich, V. and Zvárová, J. Statistical approaches for evaluation of genetic risk factor of peripheral arterial occlusive disease. Stud Health Technol Inform, 1999, vol. 68, no. 419-422

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2000
Orendáč, M., Kožich, V*., Zeman, J., Hyánek, J., Bzdúch, V., Mišovičová, N., Marklová, E., Vad'urová, L. and Pijáčková, A. Klinický obraz homocystinurie z deficitu cystathionin b-synthasy u devatenácti českých a slovenských pacientů. Čas Lék Česk, 2000, vol. 139, no. 16, 500-507

Maclean KN, Janosik M, Oliveriusova J, Kery V, Kraus JP. Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase. J Inorg Biochem. 2000 Aug 31;81(3):161-71

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2001
Monografie:

Kraus, J.P. and Kožich, V. Cystathionine beta-synthase and its deficiency. In Carmel, R. and Jacobsen, D.W. Homocysteine in Health and Disease. Cambridge: Cambridge University Press, 2001. p. 223-243.

Periodika:

Linnebank, M., Homberger, A., Kraus, J. P., Harms, E., Kožich, V. and Koch, H. G. Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Hum Mutat, 2001, vol. 17, no. 4, 350-351

Janošík, M., Oliveriusová, J., Janošíková, B., Sokolová, J., Kraus, E., Kraus, J. P. and Kožich, V*. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet, 2001, vol. 68, no. 6, 1506-1513

Jáchymová, M., Horký, K., Bultas, J., Kožich, V., Jindra, A., Peleška, J. and Martásek, P. Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy. Biochem Biophys Res Commun, 2001, vol. 284, no. 2, 426-430

Štulc, T., Melenovský, V., Grauová, B., Kožich, V. and Češka, R. Folate supplementation prevents plasma homocysteine increase after fenofibrate therapy. Nutrition, 2001, vol. 17, no. 9, 721-723

Krijt, J., Vacková, M. and Kožich, V. Measurement of homocysteine and other aminothiols in plasma: advantages of using tris(2-carboxyethyl)phosphine as reductant compared with tri-n-butylphosphine. Clin Chem, 2001, vol. 47, no. 10, 1821-1828

Sokolová, J., Janošíková, B., Terwilliger, J. D., Freiberger, T., Kraus, J. P. and Kožich, V*. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat, 2001, vol. 18, no. 6, 548-549

Smolka, V., Bekárek, V., Hlídková, E., Bučil, J., Mayerová, D., Škopková, Z., Adam, T., Hrubá, E., Kožich, V., Buriánková, L., Šaligová, J., Buncová, M. and Zeman, J. Metabolické komplikace a neurologické projevy při deficitu vitamínu B12 u dětí vegetariánských matek. Čas Lék Česk, 2001, vol. 140, no. 23, 732-735

Maclean, K. N., Gaustadnes, M., Oliveriusová, J., Janošík, M., Kraus, E., Kožich, V., Kery, V., Skovby, F., Rudiger, N., Ingerslev, J., Stabler, S. P., Allen, R. H. and Kraus, J. P. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum Mutat, 2002, vol. 19, no. 6, 641-655

Vadon-Le Goff S, Delaforge M, Boucher JL, Janosik M, Kraus JP, Mansuy D. Coordination chemistry of the heme in cystathionine beta-synthase: formation of iron(II)-isonitrile complexes. Biochem Biophys Res Commun. 2001 May 4;283(2):487-92

Janosik M, Meier M, Kery V, Oliveriusova J, Burkhard P, Kraus JP. Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease. Acta Crystallogr D Biol Crystallogr. 2001 Feb;57(Pt 2):289-91

Bruno S, Schiaretti F, Burkhard P, Kraus JP, Janosik M, Mozzarelli A. Functional properties of the active core of human cystathionine beta-synthase crystals. J Biol Chem. 2001 Jan 5;276(1):16-9

Janosik M, Kery V, Gaustadnes M, Maclean KN, Kraus JP. Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry. 2001 Sep 4;40(35):10625-33

Meier M, Janosik M, Kery V, Kraus JP, Burkhard P. Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J. 2001 Aug 1;20(15):3910-6

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2002
Krupková-Meixnerová, L., Veselá, K., Vítová, A., Janošíková, B., Anděl, M. and Kožich, V*. Methionine-loading test: evaluation of adverse effects and safety in an epidemiological study. Clin Nutr, 2002, vol. 21, no. 2, 151-156

Maclean, K. N., Janošík, M., Kraus, E., Kožich, V., Allen, R. H., Raab, B. K. and Kraus, J. P. Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae. J Cell Physiol, 2002, vol. 192, no. 1, 81-92

Kahleová, R., Palyzová, D., Zvára, K., Zvárová, J., Hrach, K., Nováková, I., Hyánek, J., Bendlová, B. and Kožich, V*. Essential hypertension in adolescents: association with insulin resistance and with metabolism of homocysteine and vitamins. Am J Hypertens, 2002, vol. 15, no. 10 Pt 1, 857-864

Zavaďáková, P., Fowler, B., Zeman, J., Suormala, T., Přistoupilová, K. and Kožich, V*. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis, 2002, vol. 25, no. 6, 461-476

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2003
Monografie:

Kožich, V. and Kraus, J. P. Cystathionine beta-synthase deficiency, genetics. In Cooper, D. N. Nature Encyclopedia of the Human Genome. London, New York, Tokyo: Nature Publishing Group, 2003. p. 1000-1008

Periodika:

Melenovský, V., Štulc, T., Kožich, V., Grauová, B., Krijt, J., Wichterle, D., Haas, T., Malík, J., Hradec, J. and Češka, R. Effect of folic acid on fenofibrate-induced elevation of homocysteine and cysteine. Am Heart J, 2003, vol. 146, no. 1, 110

Janošíková, B., Pavlíková, M., Kocmanová, D., Vítová, A., Veselá, K., Krupková, L., Kahleová, R., Krijt, J., Kraml, P., Hyánek, J., Zvárová, J., Anděl, M. and Kožich, V*. Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease. Mol Genet Metab, 2003, vol. 79, no. 3, 167-175

Vilaseca, M. A., Vilarinho, L., Zavaďáková, P., Vela, E., Cleto, E., Pineda, M., Coimbra, E., Suormala, T., Fowler, B. and Kožich, V. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis, 2003, vol. 26, no. 4, 361-369

Orendáč, M., Zeman, J., Stabler, S. P., Allen, R. H., Kraus, J. P., Bodamer, O., Stockler-Ipsiroglu, S., Kvasnička, J. and Kožich, V*. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis, 2003, vol. 26, no. 8, 761-773

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2004
Orendáč, M., Pronická, E., Kubalská, J., Janošík, M., Sokolová, J., Linnebank, M., Koch, H. G. and Kožich, V*. Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. Hum Mutat, 2004, vol. 23, no. 6, 631. Wellcome Trust Grant acknowledgement

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghauser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem. 2004; 279:42742-9

Linnebank M, Janošík M, Kožich V, Pronicka E, Kubalska J, Sokolová J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. Hum Mutat. 2004;24:352-3 Wellcome Trust Grant acknowledgement

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2005
Zavaďáková P, Fowler B, Suormala T, Novotná Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kožich V*. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mutat. 2005;25:239-47

Hyánek J, Matoušková J, Kmoníček P, Foránek P, Kožich V, Zeman J, Orendáč M, Janošík M, Lepší P, Kopřiva K, Dubská L, Dvořáková J, Veselá H, Kupka K, Pejznochová H, Hoffman R, Balasz J, Martiníková V, Vodičková M, Pola J, Maťoška V, Koubek K. Je hyperhomocysteinemie stále jen zajímavý, ale diagnosticky nevýznamný nález? Vnitř Lék 2005; 51:462-470

Veselá K, Pavlíková M, Janošíková B, Anděl M, Zvárová J, Hyánek J, Kožich V*. Genetic determinants of folate status in Central Bohemia. Physiol Res. 2005;54:295-303

Janošíková B, Zavaďáková P, Kožich V*. Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population? Eur J Hum Genet. 2005;13:86-95 Wellcome Trust Grant acknowledgement

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