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- Journal article
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich, Viktor Sokolová, Jitka Morris, Andrew A M Pavlíková, Markéta Gleich, Florian Kölker, Stefan Krijt, Jakub Dionisi-Vici, Carlo Baumgartner, Matthias R Blom, Henk J Huemer, Martina E-HOD consortium Paquay, Stéphanie[UCL] (2021) Journal of inherited metabolic disease — Vol. 44, no.3, p. 677-692 (2021)