Listen "CBS Deficiency in the E-HOD Registry"
Episode Synopsis
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
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
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
ZARZA We are Zarza, the prestigious firm behind major projects in information technology.