(Q35194903)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

author name string

Morin C

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

Mitchell G

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

Larochelle J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

Lambert M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

Ogier H

5

1 reference

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11 October 2019

Robinson BH

6

1 reference

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11 October 2019

De Braekeleer M

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

language of work or name

English

0 references

publication date

1 August 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

53

1 reference

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11 October 2019

issue

2

1 reference

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11 October 2019

page(s)

488-496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec

11 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Inborn errors of metabolism and Reye syndrome: differential diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Cytochrome c oxidase deficiency in three patients with Leigh's disease.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Cytochrome c oxidase deficiency in Leigh syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

Two siblings with cytochromec oxidase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682365

A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency

27 September 2018

1 reference

12 December 2020

Cytochrome c oxidase deficiency

1 reference

12 December 2020

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

12 December 2020

Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)

1 reference

12 December 2020

Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy

1 reference

12 December 2020

Cytochrome c oxidase deficiency

1 reference

12 December 2020

Autosomal Recessive Lethal Infantile Cytochrome C Oxidase Deficiency

1 reference

12 December 2020

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

1 reference

12 December 2020

Founder effect in familial hyperchylomicronemia among French Canadians of Quebec

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8392291%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference