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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

by 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, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Quintana, Luís Peña, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V.D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.05.2021)

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Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment

by Morris, Andrew A. M., Sokolová, Jitka, Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Hannibal, Luciana, Blom, Henk J., Huemer, Martina, Kožich, Viktor, Arantes, Rodrigo R., Blanco, Francisco Arrieta, Baghdasaryan, Anna, Ballhausen, Diana, Blasco‐Alonso, Javier, Brouwers, Martijn, Bueno, María, Burgos, Rosa, Villarroya, Elvira Cañedo, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Heras, Javier De Las, Ficicioglu, Can, Jiménez, María Concepción García, Gaspar, Ana, Leguina, Domingo González‐Lamuño, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C. H., Ješina, Pavel, Kaufman, Christina, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Miñana, Isidro Vitoria, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Peña‐Quintana, Luís, Ramadža, Danijela Petković, Porras‐Hurtado, Gloria Liliana, Quijada‐Fraile, Pilar, Redonnet‐Vernhet, Isabelle, Rennings, Alexander, Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V. D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina Maria, Sykut‐Cegielska, Jolanta, Terry, Allyson, Piñera, Inmaculada Vives, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.01.2025)

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