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. 2019 Oct 18;9(10):235. doi: 10.3390/metabo9100235

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© 2019 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Analysis of marker thiol and thioether metabolites in cystathionine β-synthase deficiency. Cystathionine β-synthase catalyzes the conversion of serine and homocysteine into cystathionine. Panel (a). Export of reaction co-substrate Hcy into conditioned culture medium after 7 days by a control subject and a B6-responsive CBS-deficient patient. Panel (b). Export of transsulfuration reaction product Cysta into conditioned culture medium after 7 days by a control subject and the B6-responsive CBS-deficient patient.