Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosisClinical Biochemistry - Tập 42 - Trang 27-33 - 2009
Judit García-Villoria, Aleix Navarro-Sastre, Carme Fons, Celia Pérez-Cerdá, Antonio Baldellou, Miguel Ángel Fuentes-Castelló, Inmaculada González, Arturo Hernández-Gonzalez, Cristina Fernández, Jaume Campistol, Carina Delpiccolo, Nuria Cortés, Angel Messeguer, Paz Briones, Antonia Ribes