Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. (Q35194903)

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English	Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.	scientific article

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Europe PubMed Central

PMC publication ID

1682365

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

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11 October 2019

title

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

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Europe PubMed Central

PMC publication ID

1682365

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

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11 October 2019

author name string

Morin C

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1

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1682365

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11 October 2019

Mitchell G

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2

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1682365

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11 October 2019

Larochelle J

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3

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1682365

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11 October 2019

Lambert M

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4

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1682365

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11 October 2019

Ogier H

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5

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1682365

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11 October 2019

Robinson BH

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6

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1682365

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11 October 2019

De Braekeleer M

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7

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Europe PubMed Central

PMC publication ID

1682365

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language of work or name

English

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publication date

1 August 1993

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1682365

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11 October 2019

published in

American Journal of Human Genetics

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1682365

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11 October 2019

volume

53

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1682365

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11 October 2019

issue

2

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1682365

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11 October 2019

page(s)

488-496

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1682365

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11 October 2019

cites work

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

1 reference

stated in

PubMed Central

reference URL

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

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13 July 2018

Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy

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13 July 2018

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

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13 July 2018

Inborn errors of metabolism and Reye syndrome: differential diagnosis

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13 July 2018

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

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13 July 2018

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

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13 July 2018

Cytochrome c oxidase deficiency in Leigh syndrome

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13 July 2018

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

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13 July 2018

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

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13 July 2018

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

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PubMed Central

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13 July 2018

Two siblings with cytochromec oxidase deficiency

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PubMed Central

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27 September 2018

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

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A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency

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Cytochrome c oxidase deficiency

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal Recessive Lethal Infantile Cytochrome C Oxidase Deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

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inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

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Founder effect in familial hyperchylomicronemia among French Canadians of Quebec

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/8392291

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1682365

1 reference

stated in

Europe PubMed Central

PMC publication ID

1682365

reference URL

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

retrieved

11 October 2019

PubMed publication ID

8392291

1 reference

stated in

Europe PubMed Central

PMC publication ID

1682365

reference URL

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

retrieved

11 October 2019

 

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