Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure (Q72416019)

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26 October 2019

title

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure (English)

1 reference

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26 October 2019

author name string

P Edery

1

1 reference

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26 October 2019

B Gérard

2

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26 October 2019

D Chretien

3

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26 October 2019

A Rötig

4

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26 October 2019

R Cerrone

5

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26 October 2019

D Rabier

6

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26 October 2019

C Rambaud

7

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26 October 2019

M Fabre

8

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26 October 2019

J M Saudubray

9

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A Munnich

10

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publication date

1 March 1994

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European Journal of Pediatrics

26 October 2019

published in

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volume

153

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26 October 2019

issue

3

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page(s)

190-194

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https://scigraph.springernature.com/pub.10.1007/bf01958984

26 October 2019

exact match

0 references

cites work

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset

1 reference

12 December 2020

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

1 reference

12 December 2020

Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies.

1 reference

12 December 2020

Mitochondrial DNA mutations and neuromuscular disease

1 reference

12 December 2020

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

1 reference

12 December 2020

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

1 reference

12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

12 December 2020

Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain

1 reference

12 December 2020

Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Assessment of the mitochondrial respiratory chain

1 reference

12 December 2020

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01958984

1 reference

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26 October 2019

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