(Q69824858)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

author name string

H Ogier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

A Lombes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

H R Scholte

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

B T Poll-The

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

M Fardeau

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

J Alcardi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

B Vignes

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

P Niaudet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

J M Saudubray

9

1 reference

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5 October 2019

language of work or name

English

0 references

publication date

1 May 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

5 October 2019

published in

1 reference

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5 October 2019

volume

112

1 reference

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5 October 2019

page(s)

734-739

1 reference

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5 October 2019

issue

5

1 reference

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5 October 2019

cites work

Mitochondrial myopathies

1 reference

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Mitochondrial myopathies. Clinical, morphological and biochemical aspects

7 January 2021

1 reference

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Genetic disorders of mitochondrial function

7 January 2021

1 reference

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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Histochemical demonstration of cytochrome oxidase with new amine reagents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Two siblings with cytochromec oxidase deficiency

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

7 January 2021

1 reference

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CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy)

7 January 2021

1 reference

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Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

7 January 2021

1 reference

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Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Cytochrome-c-oxidase deficiency in a floppy infant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.

7 January 2021

1 reference

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Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980690-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(88)80690-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2834526%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

1 reference