Kožich V - Search Results

1

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Krijt J, Kopecká J, Hnízda A, Moat S, Kluijtmans LA, Mayne P, Kožich V. Krijt J, et al. Among authors: kozich v. J Inherit Metab Dis. 2011 Feb;34(1):49-55. doi: 10.1007/s10545-010-9178-3. Epub 2010 Sep 7. J Inherit Metab Dis. 2011. PMID: 20821054 Free PMC article.

2

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.

3

Mevalonic aciduria.

Kozich V, Gibson KM, Zeman J, Nĕmecek J, Hoffman GF, Pehal F, Hyánek J, Grosmanová A, Verner P. Kozich V, et al. J Inherit Metab Dis. 1991;14(2):265-6. doi: 10.1007/BF01800602. J Inherit Metab Dis. 1991. PMID: 1653382 No abstract available.

4

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.

5

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.

6

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.

7

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.

8

Measurement of homocysteine and other aminothiols in plasma: advantages of using tris(2-carboxyethyl)phosphine as reductant compared with tri-n-butylphosphine.

Krijt J, Vacková M, Kozich V. Krijt J, et al. Among authors: kozich v. Clin Chem. 2001 Oct;47(10):1821-8. Clin Chem. 2001. PMID: 11568092

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

CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P. Zavadakova P, et al. Among authors: kozich v. J Inherit Metab Dis. 2002 Oct;25(6):461-76. doi: 10.1023/a:1021299117308. J Inherit Metab Dis. 2002. PMID: 12555939

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