Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

P. Dill, J. Schneider, P. Weber, D. Trachsel, M. Tekin, C.A.J.M. Jakobs, B. Thony, N. Blau

Research output: Contribution to journalArticleAcademicpeer-review

21 Citations (Scopus)
Original languageEnglish
Pages (from-to)362-368
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - 2011

Cite this