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Items: 1 to 20 of 114

1.

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.

Krijt J, Sokolová J, Ješina P, Dvořáková L, Řeboun M, Brennerová K, Mistrík M, Zeman J, Honzík T, Kožich V.

Clin Chem Lab Med. 2017 Jan 20. pii: /j/cclm.ahead-of-print/cclm-2016-0715/cclm-2016-0715.xml. doi: 10.1515/cclm-2016-0715. [Epub ahead of print]

PMID:
28107167
2.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4.

3.

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.

J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Review.

4.

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

Bublil EM, Majtan T, Park I, Carrillo RS, Hůlková H, Krijt J, Kožich V, Kraus JP.

J Clin Invest. 2016 Jun 1;126(6):2372-84. doi: 10.1172/JCI85396.

5.

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR.

Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970.

PMID:
26872964
6.

Thioethers as markers of hydrogen sulfide production in homocystinurias.

Kožich V, Krijt J, Sokolová J, Melenovská P, Ješina P, Vozdek R, Majtán T, Kraus JP.

Biochimie. 2016 Jul;126:14-20. doi: 10.1016/j.biochi.2016.01.001.

PMID:
26791043
7.

Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome.

Pravenec M, Kožich V, Krijt J, Sokolová J, Zídek V, Landa V, Mlejnek P, Šilhavý J, Šimáková M, Škop V, Trnovská J, Kazdová L, Kajiya T, Wang J, Kurtz TW.

Hypertension. 2016 Feb;67(2):335-41. doi: 10.1161/HYPERTENSIONAHA.115.06158.

8.

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS.

Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275.

9.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ.

J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Review.

10.

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779.

PMID:
25736335
11.

Reply to Sajantila and Budowle.

Barton DE, Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ.

Eur J Hum Genet. 2016 Mar;24(3):330. doi: 10.1038/ejhg.2014.290. No abstract available.

12.

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs.

Putku M, Kals M, Inno R, Kasela S, Org E, Kožich V, Milani L, Laan M.

Hum Genet. 2015 Mar;134(3):291-303. doi: 10.1007/s00439-014-1521-6.

13.

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.

J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7.

PMID:
25526710
14.

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Melenovská P, Kopecká J, Krijt J, Hnízda A, Raková K, Janošík M, Wilcken B, Kožich V.

J Inherit Metab Dis. 2015 Mar;38(2):287-94. doi: 10.1007/s10545-014-9781-9.

PMID:
25331909
15.

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P, Krijt J, Ruiz-Sala P, Ješina P, Ugarte M, Kožich V, Merinero B.

Clin Chim Acta. 2015 Jan 1;438:261-5. doi: 10.1016/j.cca.2014.09.009.

PMID:
25218699
16.
17.

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration.

Stibůrková B, Pavlíková M, Sokolová J, Kožich V.

PLoS One. 2014 May 14;9(5):e97646. doi: 10.1371/journal.pone.0097646.

18.

Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis.

Vozdek R, Hnízda A, Krijt J, Será L, Kožich V.

Biochim Biophys Acta. 2013 Dec;1834(12):2691-701. doi: 10.1016/j.bbapap.2013.09.020.

PMID:
24100226
19.

Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination.

Timasheva Y, Putku M, Kivi R, Kožich V, Männik J, Laan M.

Placenta. 2013 Nov;34(11):995-1001. doi: 10.1016/j.placenta.2013.08.012.

20.

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE; European Society of Human Genetics..

Eur J Hum Genet. 2014 Feb;22(2):160-70. doi: 10.1038/ejhg.2013.125.

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