Ko?ich, 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; Burgos-Peláez, Rosa; 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-CH; Je?ina, Pavel; Lachmann, Robin; Lavigne, Christian; Lund, Allan-M; Lüsebrink, Natalia; Maillot, Francois; Martins, Ana-María; Meavilla-Olivas, Silvia; Mention, Karine; Mochel, Fanny; Monavari, Ahmad; Moreira, Sonia; Araujo-Moreno, Carolina; Muacevic-Katanec, Diana; Mundy, Helen; Murphy, Elaine; Olivieri, Giorgia; Paquay, Stéphanie; Pedrón-Giner, Consuelo; Peña-Quintana, Luis; Porras-Hurtado, Gloria-L; Quijada-Fraile, Pilar; Redonnet-Vernhet, Isabelle; Rennings, Alexander-JM; Ruiz-Pons, Mónica; Santra, Saikat; Servais, Aude; Schiaffino, Maria-Cristina; Schiff, Manuel; Schwahn, Bernd-C; Schwartz, Ida-VD; Sremba, Leighann-J; Stainforth, Collette; Stepien, Karolina-M; Sykut-Cegielska, Jolanta; Terry, Allyson; Tran, Christel; Miñana, Isidro-Vitoria; Vives-Piñera, Inmaculada; Williams, Monique; Zeman, Jirí; Zielonka, Matthias
(John Wiley and Sons Inc, 2021)
Cystathionine ?-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 ...