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Biochimica Et Biophysica Acta|May 18, 1994
Effects of the creatine analogue beta-guanidinopropionic acid on skeletal muscles of mice deficient in muscle creatine kinaseJ van Deursen, P Jap, A Heerschap, et al.Journal of Inherited Metabolic Disease|January 1, 1981
Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aidW Ruitenbeek, R C Sengers, J M Trijbels, et al.Prenatal Diagnosis|May 10, 2002
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosisJ L Johnson, K V Rajagopalan, W O Renier, et al.Neuropediatrics|June 1, 1992
Mitochondrial angiopathy in a family with MELASC Förster, G Hübner, J Müller-Höcker, et al.The Journal of Pediatrics|January 1, 1995
Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcomeO N Elpeleg, W Ruitenbeek, C Jakobs, et al.Molecular and Cellular Biochemistry|October 6, 1997
Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complexF J Trijbels, W Ruitenbeek, M Huizing, et al.Archives of Neurology|July 1, 1987
Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiencyP M van Erven, F J Gabreëls, W Ruitenbeek, et al.Neuromuscular Disorders : NMD|January 1, 1992
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegiaJ Smeitink, A Stadhouders, R Sengers, et al.European Journal of Pediatrics|May 1, 1988
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activityW Sperl, W Ruitenbeek, J M Trijbels, et al.Human Genetics|October 6, 1998
Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex IJ Smeitink, J Loeffen, R Smeets, et al.Pageof 11