Results 251 to 260 of about 66,093 (301)

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy

Journal of the Neurological Sciences, 1987
Two new patients with Leigh's syndrome (subacute necrotizing encephalomyelopathy) due to deficiency of cytochrome c oxidase are presented and their data are compared with those of the four Leigh's syndrome patients previously reported with this deficiency. It is not possible to distinguish between the various biochemical aetiologies of Leigh's syndrome
ARTS, WFM, SCHOLTE, HR, LOONEN, MCB, PRZYREMBEL, H, FERNANDES, J, TRIJBELS, JMF, LUYTHOUWEN, IEM   +6 more
exaly   +4 more sources

Cytochrome c oxidase deficiency

2002
Publisher Summary Cytochrome c oxidase (COX) is the terminal component (complex IV) of the mitochondrial respiratory chain, the main energy-generating system of eukaryotic cells. COX-synthetic pathways have been derived from biochemical and genetic studies of respiratory-defective petite mutants of Saccharomyces cerevisiae .
Giacomo P, Comi, Sandra, Strazzer, Sara, Galbiati, Nereo, Bresolin   +3 more
openaire   +2 more sources

Variable Presentation of Cytochrome c Oxidase Deficiency

Archives of Pediatrics & Adolescent Medicine, 1992
To describe three patients with cytochrome c oxidase deficiency.Patient series.Tertiary care children's hospital in Arkansas.A sibling pair and an unrelated patient referred for evaluation and found to have cytochrome c oxidase deficiency.None.Affected individuals had the characteristic presentation of psychomotor regression, growth deficiency, and ...
K, Keppler, C, Cunniff
openaire   +2 more sources

Cytochrome c oxidase deficiency

American Journal of Medical Genetics, 2001
AbstractCytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain, catalyzing the transfer of electrons from reduced cytochrome c to molecular oxygen. It is composed of 13 structural subunits, three of which are encoded in mtDNA and form the catalytic core of the enzyme.
openaire   +2 more sources

Autosomal Recessive Lethal Infantile Cytochrome C Oxidase Deficiency

Archives of Pediatrics & Adolescent Medicine, 1991
Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months.
G, Eshel, E, Lahat, K, Fried, J, Barr, V, Barash, A, Gutman, S, DiMauro, M, Aladjem   +7 more
openaire   +2 more sources

Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy

Pediatric Neurology, 1992
Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating ...
K, Haginoya, S, Miyabayashi, K, Iinuma, E, Okino, H, Maesaka, K, Tada   +5 more
openaire   +2 more sources

Focal cytochrome c oxidase deficiency in various neuromuscular diseases

Journal of the Neurological Sciences, 1989
To determine whether focal cytochrome c oxidase (CCO) deficiency characterized by scattered fibers with absent CCO activity among normal fibers was a specific finding for mitochondrial myopathies, we studied 389 muscle biopsies from various neuromuscular diseases other than mitochondrial myopathies.
Yasutoshi Koga
exaly   +3 more sources

Tissue specificity in cytochrome c oxidase deficient myopathy

Journal of the Neurological Sciences, 1989
Biopsied muscles were treated in 2 ways to demonstrate cytochrome c oxidase (CCO) activity on electron microscopy: (1) one to several muscle fibers were teased off the biopsy in buffer solution after glutaraldehyde fixation, (2) 20-30-microns thick cryostat sections were placed on precooled glass slides and fixed in glutaraldehyde solution at room ...
I, Nonaka, Y, Koga, E, Ohtaki, M, Yamamoto   +3 more
openaire   +2 more sources

Infantile cytochrome c oxidase deficiency with neonatal death

Pediatric Neurology, 1989
A newborn male presented with severe respiratory insufficiency, generalized muscle weakness, and lactic acidemia. Immediately after admission, he was placed on a respirator because of respiratory arrest. He deteriorated rapidly and died 75 hours after birth.
T, Takayanagi, M, Inoue, K, Tomimasu, C, Shimomura, T, Matsuzaka, Y, Tsuji, I, Nonaka   +6 more
openaire   +2 more sources

Cytochromec oxidase: Organ-specific isoenzymes and deficiencies

Journal of Inherited Metabolic Disease, 1988
Ever since the first report of Luft et al. (1962), considerable information has become available on inherited metabolic diseases originating from defects in mitochondria. Apart from defects in the import of substrates, in the carboxylic acid cycle, and in fatty acid oxidation, many dysfunctions have been described in the mitochondrial respiratory chain
Sinjorgo, K. M., Hakvoort, T. B., Muijsers, A. O., Schram, A. W., Tager, J. M.   +4 more
openaire   +2 more sources