(Q45124854)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15505378%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency (English)

1 reference

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4 January 2020

13

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4 January 2020

Stacey Kiat-Hong Tay

11

1 reference

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4 January 2020

author name string

C P Venditti

1

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4 January 2020

M C Harris

2

1 reference

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4 January 2020

D Huff

3

1 reference

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4 January 2020

I Peterside

4

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4 January 2020

D Munson

5

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4 January 2020

H S Weber

6

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4 January 2020

J Rome

7

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4 January 2020

E M Kaye

8

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4 January 2020

S Shanske

9

1 reference

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4 January 2020

S Sacconi

10

1 reference

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4 January 2020

S DiMauro

12

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4 January 2020

publication date

1 January 2004

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Journal of Inherited Metabolic Disease

4 January 2020

published in

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4 January 2020

volume

27

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4 January 2020

issue

6

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4 January 2020

page(s)

735-739

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https://scigraph.springernature.com/pub.10.1023/b:boli.0000045711.89888.5e

4 January 2020

exact match

0 references

cites work

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

1 reference

12 December 2020

Mitochondrial respiratory-chain diseases

1 reference

12 December 2020

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

1 reference

12 December 2020

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

1 reference

12 December 2020

Antenatal manifestations of mitochondrial respiratory chain deficiency

1 reference

12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

1 reference

12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

12 December 2020

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

12 December 2020

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

12 December 2020

Mutation screening in patients with isolated cytochrome c oxidase deficiency

1 reference

12 December 2020

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

1 reference

12 December 2020

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

12 December 2020