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The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Hum Mutat. 2004 Oct;24(4):352-3. doi: 10.1002/humu.9280.
Hum Mutat. 2004.
PMID: 15365998
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M, Hismi B, Ozgul RK, Karaca S, Yilmaz DY, Coskun T, Sivri HS, Tokatli A, Dursun A.
Karaca M, et al.
Gene. 2014 Jan 25;534(2):197-203. doi: 10.1016/j.gene.2013.10.060. Epub 2013 Nov 6.
Gene. 2014.
PMID: 24211323
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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.
Alcaide P, et al.
Clin Chim Acta. 2015 Jan 1;438:261-5. doi: 10.1016/j.cca.2014.09.009. Epub 2014 Sep 16.
Clin Chim Acta. 2015.
PMID: 25218699
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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
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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.
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.
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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.
Hum Mutat. 2004 Jun;23(6):631. doi: 10.1002/humu.9249.
Hum Mutat. 2004.
PMID: 15146473
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Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Magner M, Krupková L, Honzík T, Zeman J, Hyánek J, Kožich V.
Magner M, et al.
J Inherit Metab Dis. 2011 Feb;34(1):33-7. doi: 10.1007/s10545-010-9146-y. Epub 2010 Jun 22.
J Inherit Metab Dis. 2011.
PMID: 20567906
Free PMC article.
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