Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation

S. Wortmann; R.J. Rodenburg; M.T. Huizing; F.J. Loupatty; T.J. de Koning; L.A. Kluijtmans; U.F.H Engelke; R. Wevers; J.A.M. Smeitink; E. Morava

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation

Translated title of the contribution: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation

S. Wortmann
, R.J. Rodenburg
, M.T. Huizing
, F.J. Loupatty
, T.J. de Koning
, L.A. Kluijtmans
, U.F.H Engelke
, R. Wevers
, J.A.M. Smeitink
, E. Morava

Metabolic diseases

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

Translated title of the contribution	Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation
Original language	Undefined/Unknown
Pages (from-to)	47-52
Number of pages	6
Journal	Molecular Genetics and Metabolism
Volume	88
Publication status	Published - 2006

Cite this

Wortmann, S., Rodenburg, R. J., Huizing, M. T., Loupatty, F. J., de Koning, T. J., Kluijtmans, L. A., Engelke, U. F. H., Wevers, R., Smeitink, J. A. M., & Morava, E. (2006). Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation. Molecular Genetics and Metabolism, 88, 47-52.

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title = "Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation",

author = "S. Wortmann and R.J. Rodenburg and M.T. Huizing and F.J. Loupatty and \{de Koning\}, T.J. and L.A. Kluijtmans and U.F.H Engelke and R. Wevers and J.A.M. Smeitink and E. Morava",

year = "2006",

language = "Undefined/Unknown",

volume = "88",

pages = "47--52",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

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Wortmann, S, Rodenburg, RJ, Huizing, MT, Loupatty, FJ, de Koning, TJ, Kluijtmans, LA, Engelke, UFH, Wevers, R, Smeitink, JAM & Morava, E 2006, 'Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation', Molecular Genetics and Metabolism, vol. 88, pp. 47-52.

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation. / Wortmann, S.; Rodenburg, R.J.; Huizing, M.T. et al.
In: Molecular Genetics and Metabolism, Vol. 88, 2006, p. 47-52.

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

TY - JOUR

T1 - Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy and Leigh-like syndrome (MEDGEL association) in four patients with a disorder of the oxidative phosphorylation

AU - Wortmann, S.

AU - Rodenburg, R.J.

AU - Huizing, M.T.

AU - Loupatty, F.J.

AU - de Koning, T.J.

AU - Kluijtmans, L.A.

AU - Engelke, U.F.H

AU - Wevers, R.

AU - Smeitink, J.A.M.

AU - Morava, E.

PY - 2006

Y1 - 2006

M3 - Article

SN - 1096-7192

VL - 88

SP - 47

EP - 52

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

ER -