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

Cite this

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

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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

TY - JOUR

T1 - Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

AU - Stockler, S.

AU - Plecko, B.

AU - Gospe, S.M.

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.

PY - 2011

Y1 - 2011

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DO - 10.1016/j.ymgme.2011.05.014

M3 - Article

C2 - 21704546

VL - 104

SP - 48

EP - 60

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1-2

ER -