3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
Wortmann, S B, Kremer, B H, Graham, A, Willemsen, M A, Loupatty, F J, Hogg, S L, Engelke, U F, Kluijtmans, L A, Wanders, R J, Illsinger, S, Wilcken, B, Cruysberg, J R, Das, A M, Morava, E, Wevers, R A
Published in Neurology (21.09.2010)
Published in Neurology (21.09.2010)
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Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
Wortmann, S., Rodenburg, R.J.T., Huizing, M., Loupatty, F.J., de Koning, T., Kluijtmans, L.A.J., Engelke, U., Wevers, R., Smeitink, J.A.M., Morava, E.
Published in Molecular genetics and metabolism (01.05.2006)
Published in Molecular genetics and metabolism (01.05.2006)
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