Publication
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
Jean Jacobs, Hristiana Lyubenova, Sven Potelle, Johannes Kopp, Isabelle Gerin, Wing Lee Chan, Miguel Rodriguez de los Santos, Wiebke Hülsemann, Martin A. Mensah, Valérie Cormier-Daire, Marieke Joosten, Hennie T. Bruggenwirth, Kyra E. Stuurman, Valancy Miranda, Philippe M. Campeau, Lars Wittler, Julie Graff, Stefan Mundlos, Daniel M. Ibrahim, Emile Van Schaftingen, Björn Fischer-Zirnsak, Uwe Kornak, Nadja Ehmke, Guido T. Bommer
Nature, August 2025, Springer Science + Business Media
DOI: 10.1038/s41586-025-09397-x