Kožich V - Search Results

1

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: kozich v. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.

2

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

Kozich V, Kraus JP. Kozich V, et al. Hum Mutat. 1992;1(2):113-23. doi: 10.1002/humu.1380010206. Hum Mutat. 1992. PMID: 1301198

3

Unusual clinical presentation in two boys with cytochrome c oxidase deficiency.

Hrebícek M, Zeman J, Petrák B, Kozich V, Hyánek J, Ruiter JP, Wanders RJ, Wijburg FA. Hrebícek M, et al. Among authors: kozich v. J Inherit Metab Dis. 1992;15(3):320-2. doi: 10.1007/BF02435966. J Inherit Metab Dis. 1992. PMID: 1357227 No abstract available.

4

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE. Hu FL, et al. Among authors: kozich v. Hum Mol Genet. 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857. Hum Mol Genet. 1993. PMID: 7506602

5

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.

Kozich V, Janosík M, Sokolová J, Oliveriusová J, Orendác M, Kraus JP, Elleder D. Kozich V, et al. J Inherit Metab Dis. 1997 Jul;20(3):363-6. doi: 10.1023/a:1005325911665. J Inherit Metab Dis. 1997. PMID: 9266356 Clinical Trial. No abstract available.

6

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Among authors: kozich v. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.

7

Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?

Orendác M, Musková B, Richterová E, Zvárová J, Stefek M, Zaykova E, Kraus JP, Stríbrný J, Hyánek J, Kozich V. Orendác M, et al. Among authors: kozich v. J Inherit Metab Dis. 1999 Jun;22(5):674-5. doi: 10.1023/a:1005554702861. J Inherit Metab Dis. 1999. PMID: 10399104 No abstract available.

8

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

Janosík M, Oliveriusová J, Janosíková B, Sokolová J, Kraus E, Kraus JP, Kozich V. Janosík M, et al. Among authors: kozich v. Am J Hum Genet. 2001 Jun;68(6):1506-13. doi: 10.1086/320597. Epub 2001 May 15. Am J Hum Genet. 2001. PMID: 11359213 Free PMC article.

9

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

Sokolová J, Janosíková B, Terwilliger JD, Freiberger T, Kraus JP, Kozich V. Sokolová J, et al. Among authors: kozich v. Hum Mutat. 2001 Dec;18(6):548-9. doi: 10.1002/humu.1239. Hum Mutat. 2001. PMID: 11748855

10

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

Maclean KN, Gaustadnes M, Oliveriusová J, Janosík M, Kraus E, Kozich V, Kery V, Skovby F, Rüdiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP. Maclean KN, et al. Among authors: kozich v. Hum Mutat. 2002 Jun;19(6):641-55. doi: 10.1002/humu.10089. Hum Mutat. 2002. PMID: 12007221

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