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Mefford, Heather C; Zemel, Matthew; Geraghty, Eileen; Cook, Joseph; Clayton, Peter T; Paul, Karl; Plecko, Barbara; Mills, Philippa B; Nordli, Douglas R; Gospe, Sidney M (2015). Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology, 85(9):756-762.

van Karnebeek, Clara D M; Stockler-Ipsiroglu, Sylvia; Jaggumantri, Sravan; Assmann, Birgit; Baxter, Peter; Buhas, Daniela; Bok, Levinus A; Cheng, Barbara; Coughlin, Curtis R; Das, Anibh M; Giezen, Alette; Al-Hertani, Wahla; Ho, Gloria; Meyer, Uta; Mills, Philippa; Plecko, Barbara; Struys, Eduard; Ueda, Keiko; Albersen, Monique; Verhoeven, Nanda; Gospe, Sidney M; Gallagher, Renata C; Van Hove, Johan K L; Hartmann, Hans (2015). Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: The PDE consortium consensus recommendations. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 47-57.

van Karnebeek, Clara D M; Hartmann, Hans; Jaggumantri, Sravan; Bok, Levinus A; Cheng, Barb; Connolly, Mary; Coughlin, Curtis R; Das, Anibh M; Gospe, Sidney M; Jakobs, Cornelis; van der Lee, Johanna H; Mercimek-Mahmutoglu, Saadet; Meyer, Uta; Struys, Eduard; Sinclair, Graham; Van Hove, Johan; Collet, Jean-Paul; Plecko, Barbara R; Stockler, Sylvia (2012). Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Molecular Genetics and Metabolism, 107(3):335-344.

This list was generated on Fri Aug 17 07:55:25 2018 CEST.