A patient with lactic acidaemia and cytochrome oxidase deficiency

Leigh's Encephalomyelopathy in a Patient With Cytochrome <i>c</i> Oxidase Deficiency in Muscle Tissue

J. L. Willems, L.A.H. Monnens, J. M. F. Trijbels et al. · PEDIATRICS · 1977 · 238 citations

Life Sciences, Neurology, Neuroscience +17

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency

Salvatore DiMauro, Jerry R. Mendell, Zarife Sahenk et al. · Neurology · 1980 · 201 citations

Life Sciences, Pathobiology, Pathology +17

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

J. P. G. M. Van Biervliet, L. Bruinvis, D. Ketting et al. · Pediatric Research · 1977 · 176 citations

Medicine, Genetics, Molecular Genetics +17

Pyruvate oxidation in rat and human skeletal muscle mitochondria

H. Bookelman, J. M. F. Trijbels, R. C. A. Sengers et al. · Biochemical Medicine · 1978 · 78 citations

Life Sciences, Biochemistry, Physiology +14

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

L.A.H. Monnens, F. Gabreëls, J. L. Willems · The Journal of Pediatrics · 1975 · 34 citations

Medicine, Neurology, Physiology +12