Kozich V - Search Results

1

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. Suormala T, et al. Among authors: kozich v. J Biol Chem. 2004 Oct 8;279(41):42742-9. doi: 10.1074/jbc.M407733200. Epub 2004 Aug 2. J Biol Chem. 2004. PMID: 15292234 Free article.

2

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

3

CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.

Vilaseca MA, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V. Vilaseca MA, et al. Among authors: kozich v. J Inherit Metab Dis. 2003;26(4):361-9. doi: 10.1023/a:1025159103257. J Inherit Metab Dis. 2003. PMID: 12971424

4

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Orendáè M, Pronicka E, Kubalska J, Janosik M, Sokolová J, Linnebank M, Koch HG, Kozich V. Orendáè M, et al. Among authors: kozich v. Hum Mutat. 2004 Jun;23(6):631. doi: 10.1002/humu.9249. Hum Mutat. 2004. PMID: 15146473

5

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

Janosíková B, Zavadáková P, Kozich V. Janosíková B, et al. Among authors: kozich v. Eur J Hum Genet. 2005 Jan;13(1):86-95. doi: 10.1038/sj.ejhg.5201282. Eur J Hum Genet. 2005. PMID: 15494741

6

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Zavadáková P, et al. Among authors: kozich v. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131. Hum Mutat. 2005. PMID: 15714522

7

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

Fowler B, Burlina A, Kozich V, Vianey-Saban C. Fowler B, et al. Among authors: kozich v. J Inherit Metab Dis. 2008 Dec;31(6):680-9. doi: 10.1007/s10545-008-1025-4. Epub 2008 Nov 21. J Inherit Metab Dis. 2008. PMID: 19016343

8

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.

Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. Homolova K, et al. Among authors: kozich v. Hum Mutat. 2010 Apr;31(4):437-44. doi: 10.1002/humu.21206. Hum Mutat. 2010. PMID: 20120036 Free PMC article.

9

Foreword to special issue on homocysteine disorders.

Fowler B, Blom HJ, Kožich V. Fowler B, et al. Among authors: kozich v. J Inherit Metab Dis. 2011 Feb;34(1):1-2. doi: 10.1007/s10545-010-9257-5. J Inherit Metab Dis. 2011. PMID: 21221810 Free PMC article. No abstract available.

10

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR. Huemer M, et al. Among authors: kozich v. J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526710 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

162 results

Search Page