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Literature DB >> 6321854

Two siblings with cytochrome c oxidase deficiency.

S Miyabayashi, K Narisawa, K Tada, K Sakai, K Kobayashi, Y Kobayashi.

Abstract

Mesh：

Year: 1983 PMID： 6321854 DOI： 10.1007/bf01800742

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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9 in total

1. Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.

Authors: J L Willems; L A Monnens; J M Trijbels; J H Veerkamp; A E Meyer; K van Dam; U van Haelst
Journal: Pediatrics Date: 1977-12 Impact factor: 7.124

2. Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.

Authors: F J Ballard; R W Hanson
Journal: Biochem J Date: 1967-09 Impact factor: 3.857

3. Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.

Authors: J P Van Biervliet; L Bruinvis; D Ketting; P K De Bree; C Van der Heiden; S K Wadman
Journal: Pediatr Res Date: 1977-10 Impact factor: 3.756

4. Oxidative phosphorylation in mitochondria isolated from human fibroblasts.

Authors: A J Millis; D A Pious
Journal: Biochim Biophys Acta Date: 1973-01-18

5. Cytochrome-c-oxidase deficiency in a floppy infant.

Authors: T D Heiman-Patterson; E Bonilla; S DiMauro; J Foreman; D L Schotland
Journal: Neurology Date: 1982-08 Impact factor: 9.910

6. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

Authors: B M Atkin; M F Utter; M B Weinberg
Journal: Pediatr Res Date: 1979-01 Impact factor: 3.756

7. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.

Authors: S DiMauro; J R Mendell; Z Sahenk; D Bachman; A Scarpa; R M Scofield; C Reiner
Journal: Neurology Date: 1980-08 Impact factor: 9.910

8. Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity.

Authors: K Hayasaka; K Metoki; T Satoh; K Narisawa; K Tada; T Kawakami; N Matsuo; T Aoki
Journal: Tohoku J Exp Med Date: 1982-07 Impact factor: 1.848

9. Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.

Authors: K F Sheu; C W Hu; M F Utter
Journal: J Clin Invest Date: 1981-05 Impact factor: 14.808

9 in total

16 in total

Review 1. Mitochondrial myopathies.

Authors: S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

2. Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

Authors: M Glerum; B H Robinson; C Spratt; J Wilson; D Patrick
Journal: Am J Hum Genet Date: 1987-10 Impact factor: 11.025

3. Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

Authors: H R Scholte; H F Busch; I E Luyt-Houwen; M H Vaandrager-Verduin; H Przyrembel; W F Arts
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

Two siblings with cytochrome c oxidase deficiency.

1. Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.

2. Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.

3. Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.

4. Oxidative phosphorylation in mitochondria isolated from human fibroblasts.

5. Cytochrome-c-oxidase deficiency in a floppy infant.

6. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

7. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.

8. Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity.

9. Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.

Review 1. Mitochondrial myopathies.

2. Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

3. Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

4. Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy.

5. Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome).

Review 6. Mitochondrial myopathy: a genetic study of 71 cases.

7. A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.

8. Immunochemical study in three patients with cytochrome c oxidase deficiency presenting Leigh's encephalomyelopathy.

9. Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

10. Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.