High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Article ID	Journal	Published Year	Pages	File Type
5905996	Gene	2014	7 Pages	PDF

Abstract

This study provides molecular findings of 26 Turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the CBS mutations.

Keywords

AdoMet CBS DHPLC CVST S-adenosyl-L-methionine Cerebral venous sinus thrombosis Cystathionine beta-synthase

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

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High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Authors

Mehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, Sefayet Karaca, Didem Yucel Yilmaz, Turgay Coskun, Hatice Serap Sivri, Aysegul Tokatli, Ali Dursun,