(Q46834997)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

Dorota Piekutowska-Abramczuk

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Jolanta Sykut-Cegielska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Hana Hansikova

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Marek Böhm

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Elzbieta Karczmarewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Josef Houstek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

2 December 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

21-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326995%20AND%20SRC:MED&resulttype=core&format=json

The mitochondrial electron transport and oxidative phosphorylation system

10 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Human cytochrome c oxidase: structure, function, and deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mitochondrial energy metabolism is regulated via nuclear-coded subunits of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Turkey cytochrome c oxidase contains subunit VIa of the liver type associated with low efficiency of energy transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Human cytochrome oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

The clinical spectrum of mitochondrial disease in 75 pediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mutation screening in patients with isolated cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mitochondrial energy metabolism in very premature neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Biochemical studies of skeletal muscle mitochondria. I. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mitochondrial DNA depletion in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

The epidemiology of mitochondrial disorders--past, present and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mitochondrial DNA depletion and dGK gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

Cytochrome-c Oxidase in Developing Rat Heart Enzymic Properties and Amino-terminal Sequences Suggest Identity of the Fetal Heart and the Adult Liver Isoform

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000190572.68191.13

10.1203/01.PDR.0000190572.68191.13

21 January 2018

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i2w2chddjjhfhco3y7jckzo5fy

mapped directly with Wikidata item

30 July 2022

based on heuristic

Dimensions Publication ID

1005682343

0 references

Fatcat ID

release_i2w2chddjjhfhco3y7jckzo5fy

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i2w2chddjjhfhco3y7jckzo5fy

mapped directly with Wikidata item

30 July 2022

based on heuristic

https://api.fatcat.wiki/v0/release/i2w2chddjjhfhco3y7jckzo5fy

1 reference