(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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Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

24 November 2017

author name string

Robinson BH

1

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

De Meirleir L

2

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Glerum M

3

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

Sherwood G

4

1 reference

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24 November 2017

Becker L

5

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Europe PubMed Central

PubMed publication ID

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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PubMed publication ID

24 November 2017

2

1 reference

Europe PubMed Central

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24 November 2017

216-222

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

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

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

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

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

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Two siblings with cytochromec oxidase deficiency

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

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

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

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

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

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

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10.1016/S0022-3476(87)80157-9

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 November 2017

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