EPISODE · Feb 17, 2025 · 15 MIN
CBS Deficiency in the E-HOD Registry
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
Dr Andrew Morris joins the podcast to discuss insights from 311 patients with CBS deficiency (classical homocystinuria), their response to treatment and clinical outcomes. Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment Andrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich, E-HOD Consortium https://doi.org/10.1002/jimd.12844
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CBS Deficiency in the E-HOD Registry
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