(Q35253907)

7 August 2017

In vivo functional investigations of lactic acid in patients with respiratory chain disorders (English)

1 reference

7 August 2017

Touati G

1

1 reference

7 August 2017

Rigal O

2

1 reference

7 August 2017

Lombès A

3

1 reference

7 August 2017

Frachon P

4

1 reference

7 August 2017

Giraud M

5

1 reference

7 August 2017

Ogier de Baulny H

6

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 January 1997

1 reference

Archives of Disease in Childhood

7 August 2017

1 reference

7 August 2017

76

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7 August 2017

1

1 reference

7 August 2017

16-21

1 reference

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717026

Friedreich's ataxia: intravenous pyruvate load to demonstrate a defect in pyruvate metabolism

26 September 2018

1 reference

12 December 2020

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

12 December 2020

Mitochondrial Myopathy Studies on Permeabilized Muscle Fibers1

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.76.1.16

1 reference

7 August 2017

1 reference

7 August 2017

1 reference