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

doi:10.1016/j.ymgme.2011.05.019

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

Clinical chemistry

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

Original language	Undefined/Unknown
Pages (from-to)	362-368
Journal	Molecular Genetics and Metabolism
Volume	104
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2011.05.019
Publication status	Published - 2011

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10.1016/j.ymgme.2011.05.019

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Dill, P., Schneider, J., Weber, P., Trachsel, D., Tekin, M., Jakobs, C. A. J. M., Thony, B., & Blau, N. (2011). Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular Genetics and Metabolism, 104(3), 362-368. https://doi.org/10.1016/j.ymgme.2011.05.019

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

year = "2011",

doi = "10.1016/j.ymgme.2011.05.019",

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volume = "104",

pages = "362--368",

journal = "Molecular Genetics and Metabolism",

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Dill, P, Schneider, J, Weber, P, Trachsel, D, Tekin, M, Jakobs, CAJM, Thony, B & Blau, N 2011, 'Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)', Molecular Genetics and Metabolism, vol. 104, no. 3, pp. 362-368. https://doi.org/10.1016/j.ymgme.2011.05.019

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). / Dill, P.; Schneider, J.; Weber, P. et al.

In: Molecular Genetics and Metabolism, Vol. 104, No. 3, 2011, p. 362-368.

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

TY - JOUR

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AU - Dill, P.

AU - Schneider, J.

AU - Weber, P.

AU - Trachsel, D.

AU - Tekin, M.

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

AU - Thony, B.

AU - Blau, N.

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JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

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