Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

S. Stockler; B. Plecko; S.M. Gospe; M. Coulter-Mackie; M. Connolly; C. van Karnebeek; S. Mercimek-Mahmutoglu; H. Hartmann; G. Scharer; E. Struijs; I. Tein; C.A.J.M. Jakobs; P. Clayton; J.LK. van Hove

doi:10.1016/j.ymgme.2011.05.014

Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

S. Stockler, B. Plecko, S.M. Gospe, M. Coulter-Mackie, M. Connolly, C. van Karnebeek, S. Mercimek-Mahmutoglu, H. Hartmann, G. Scharer, E. Struijs, I. Tein, C.A.J.M. Jakobs, P. Clayton, J.LK. van Hove

Clinical chemistry

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	48-60
Journal	Molecular Genetics and Metabolism
Volume	104
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2011.05.014
Publication status	Published - 2011

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10.1016/j.ymgme.2011.05.014

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Stockler, S., Plecko, B., Gospe, S. M., Coulter-Mackie, M., Connolly, M., van Karnebeek, C., Mercimek-Mahmutoglu, S., Hartmann, H., Scharer, G., Struijs, E., Tein, I., Jakobs, C. A. J. M., Clayton, P., & van Hove, J. LK. (2011). Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Molecular Genetics and Metabolism, 104(1-2), 48-60. https://doi.org/10.1016/j.ymgme.2011.05.014

Stockler, S. ; Plecko, B. ; Gospe, S.M. ; Coulter-Mackie, M. ; Connolly, M. ; van Karnebeek, C. ; Mercimek-Mahmutoglu, S. ; Hartmann, H. ; Scharer, G. ; Struijs, E. ; Tein, I. ; Jakobs, C.A.J.M. ; Clayton, P. ; van Hove, J.LK. / Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. In: Molecular Genetics and Metabolism. 2011 ; Vol. 104, No. 1-2. pp. 48-60.

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author = "S. Stockler and B. Plecko and S.M. Gospe and M. Coulter-Mackie and M. Connolly and {van Karnebeek}, C. and S. Mercimek-Mahmutoglu and H. Hartmann and G. Scharer and E. Struijs and I. Tein and C.A.J.M. Jakobs and P. Clayton and {van Hove}, J.LK.",

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Stockler, S, Plecko, B, Gospe, SM, Coulter-Mackie, M, Connolly, M, van Karnebeek, C, Mercimek-Mahmutoglu, S, Hartmann, H, Scharer, G, Struijs, E, Tein, I, Jakobs, CAJM, Clayton, P & van Hove, JLK 2011, 'Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up', Molecular Genetics and Metabolism, vol. 104, no. 1-2, pp. 48-60. https://doi.org/10.1016/j.ymgme.2011.05.014

Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. / Stockler, S.; Plecko, B.; Gospe, S.M.; Coulter-Mackie, M.; Connolly, M.; van Karnebeek, C.; Mercimek-Mahmutoglu, S.; Hartmann, H.; Scharer, G.; Struijs, E.; Tein, I.; Jakobs, C.A.J.M.; Clayton, P.; van Hove, J.LK.

In: Molecular Genetics and Metabolism, Vol. 104, No. 1-2, 2011, p. 48-60.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Coulter-Mackie, M.

AU - Connolly, M.

AU - van Karnebeek, C.

AU - Mercimek-Mahmutoglu, S.

AU - Hartmann, H.

AU - Scharer, G.

AU - Struijs, E.

AU - Tein, I.

AU - Jakobs, C.A.J.M.

AU - Clayton, P.

AU - van Hove, J.LK.

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