Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)
| Autor: | Dill, Patricia, Schneider, Jacques, Weber, Peter, Trachsel, Daniel, Tekin, Mustafa, Jakobs, Cornelis, Thöny, Beat, Blau, Nenad |
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| Zdroj: | In Molecular Genetics and Metabolism November 2011 104(3):362-368 |
| Databáze: | ScienceDirect |
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