(Q43499491)

English

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

scientific article published in February 1987

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scholarly article

1 reference

Europe PubMed Central

24 November 2017

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease (English)

1 reference

Europe PubMed Central

24 November 2017

author name string

Robinson BH

1

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Europe PubMed Central

24 November 2017

De Meirleir L

2

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Europe PubMed Central

24 November 2017

Glerum M

3

1 reference

Europe PubMed Central

24 November 2017

Sherwood G

4

1 reference

Europe PubMed Central

24 November 2017

Becker L

5

1 reference

Europe PubMed Central

24 November 2017

language of work or name

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publication date

1 February 1987

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24 November 2017

The Journal of Pediatrics

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24 November 2017

110

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24 November 2017

216-222

1 reference

Europe PubMed Central

24 November 2017

2

1 reference

Europe PubMed Central

24 November 2017

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

1 reference

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Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver

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Childhood mitochondrial myopathy with ophthalmoplegia

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Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

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Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

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A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

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Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

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A cytochrome-related inherited disorder of the nervous system and muscle

1 reference

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A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency

1 reference

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7 January 2021

Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Cytochrome-c-oxidase deficiency in a floppy infant

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7 January 2021

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

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7 January 2021

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

1 reference

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7 January 2021

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.

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7 January 2021

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

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7 January 2021

Two siblings with cytochromec oxidase deficiency

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7 January 2021

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

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7 January 2021

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.

1 reference

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7 January 2021

Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.

1 reference

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7 January 2021

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

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7 January 2021

An analysis of the polypeptide composition of bovine heart mitochondrial NADH-ubiquinone oxidoreductase by two-dimensional polyacrylamide-gel electrophoresis

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7 January 2021

Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase

1 reference

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7 January 2021

Oxidative phosphorylation in mitochondria isolated from human fibroblasts

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Identifiers

10.1016/S0022-3476(87)80157-9

1 reference

Europe PubMed Central

24 November 2017

1 reference

Europe PubMed Central

24 November 2017

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