(Q41791448)

10 October 2017

Clinical aspects of mitochondrial disorders (English)

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10 October 2017

Valérie Cormier-Daire

object named as

V Cormier

7

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author name string

A Munnich

1

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10 October 2017

P Rustin

2

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10 October 2017

A Rötig

3

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10 October 2017

D Chretien

4

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10 October 2017

J P Bonnefont

5

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10 October 2017

C Nuttin

6

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10 October 2017

A Vassault

8

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10 October 2017

P Parvy

9

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10 October 2017

J Bardet

10

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10 October 2017

1 January 1992

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Journal of Inherited Metabolic Disease

10 October 2017

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10 October 2017

15

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10 October 2017

448-455

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10 October 2017

4

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https://scigraph.springernature.com/pub.10.1007/bf01799603

10 October 2017

0 references

cites work

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

1 reference

12 December 2020

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

Mitochondrial DNA mutations and neuromuscular disease

1 reference

12 December 2020

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

1 reference

12 December 2020

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

12 December 2020

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

1 reference

12 December 2020

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy

1 reference

12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799603

1 reference

Dimensions Publication ID

10 October 2017

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1 reference