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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

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Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the ti...

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Main Authors: Kožich, Viktor (Author) , Sokolová, Jitka (Author) , Morris, Andrew A. M. (Author) , Pavlíková, Markéta (Author) , Gleich, Florian (Author) , Kölker, Stefan (Author) , Krijt, Jakub (Author) , Dionisi-Vici, Carlo (Author) , Baumgartner, Matthias R. (Author) , Blom, Henk J. (Author) , Huemer, Martina (Author)
Format: Article (Journal)
Language:English
Published: 2021
In: Journal of inherited metabolic disease
Year: 2021, Volume: 44, Issue: 3, Pages: 677-692
ISSN:1573-2665
DOI:10.1002/jimd.12338
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12338
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12338
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Author Notes:Viktor Kožich, Jitka Sokolová, Andrew A. M. Morris, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Jakub Krijt, Carlo Dionisi-Vici, Matthias R. Baumgartner, Henk J. Blom, Martina Huemer, E-Hod Consortium
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Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I by Sauer, Sven (Author) , Opp, Silvana (Author) , Hoffmann, Georg F. (Author) , Koeller, David M. (Author) , Okun, Jürgen G. (Author) , Kölker, Stefan (Author) ,


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