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

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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247016/
https://www.ncbi.nlm.nih.gov/pubmed/33295057
http://dx.doi.org/10.1002/jimd.12338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247016/
https://www.ncbi.nlm.nih.gov/pubmed/33295057
http://dx.doi.org/10.1002/jimd.12338

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