Maintenance: Thursday, 22 March 2018, 18:00-18:15
Maintenance work on the ZORA servers is provided. There may be short interruptions in the service between 18:00 and 18:15. Thank you for your patience.
Dill, P; Schneider, J; Weber, P; Trachsel, D; Tekin, M; Jakobs, C; Thöny, B; Blau, N (2011). Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular Genetics and Metabolism, 104(3):362-368.