New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency

Autor: Dionisi-Vici, C., Ruitenbeek, W., Fariello, G., Bentlage, H., Wanders, R. J., Schägger, H., Bosman, C., Piantadosi, C., Sabetta, G., Bertini, E.

Publikováno v: Annals of Neurology, 42, 4, pp. 661-665
Annals of Neurology, 42, 661-665
Annals of Neurology, 42, pp. 661-665
Annals of neurology, 42(4), 661-665. John Wiley and Sons Inc.

Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::461856d668e0a739121ccd7660162cb7
https://doi.org/10.1002/ana.410420419

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Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies.

Autor: Korenke, G., Bentlage, H., Ruitenbeek, W., Sengers, R., Sperl, W., Trijbels, J., Gabreels, F., Wijburg, F., Wiedermann, V., Hanefeld, F., Wendel, U., Reckmann, M., Griebel, V., Wölk, H., Korenke, G C, Bentlage, H A, Sengers, R C, Trijbels, J M, Gabreels, F J, Wijburg, F A

Publikováno v: European Journal of Pediatrics; 1990, Vol. 150 Issue 2, p104-108, 5p

Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.

Autor: Sperl, W., Ruitenbeek, W., Sengers, R., Trijbels, J., Bentlage, H., Wraith, J., Heilmann, C., Stöckler, S., Binder, C., Korenke, G., Hanefeld, F., Sengers, R C, Trijbels, J M, Wraith, J E, Stöckler, S, Korenke, G C

Publikováno v: European Journal of Pediatrics; 1992, Vol. 151 Issue 3, p192-195, 4p

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

Autor: Mourmans, J., Wendel, U., Bentlage, H. A. C. M., Trijbels, J. M. F., Smeitink, J. A. M., Coo, I. F. M. De, Gabreels, F. J. M., Sengers, R. C. A., Ruitenbeek, W.

Publikováno v: Journal of the Neurological Sciences; 1997, Vol. 149 Issue: 1 p111-117, 7p